Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. (Q53577198)

15 May 2018

review article

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title

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. (English)

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15 May 2018

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15 May 2018

author name string

Jesse M Hunter

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15 May 2018

Jeff Kiefer

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15 May 2018

Christopher D Balak

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15 May 2018

Sonya Jooma

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15 May 2018

Mary Ellen Ahearn

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15 May 2018

Lisa Baumbach-Reardon

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15 May 2018

language of work or name

English

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publication date

19 March 2015

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15 May 2018

American Journal of Medical Genetics

published in

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15 May 2018

volume

167A

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15 May 2018

issue

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15 May 2018

page(s)

931-973

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15 May 2018

A familial syndrome of short stature associated with facial dysplasia and genital anomalies

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A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis

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Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association

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Expression of L1 decreases during postnatal development of rat spinal cord

21 January 2018

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

21 January 2018

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Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.

21 January 2018

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TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression

21 January 2018

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Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).

21 January 2018

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Deletion of CASK in mice is lethal and impairs synaptic function

21 January 2018

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Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer

21 January 2018

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New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum

21 January 2018

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Keipert syndrome in two brothers from Turkey

21 January 2018

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Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

21 January 2018

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Arthrogryposis: a review and update

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Expanding the phenotypic spectrum of L1CAM-associated disease.

21 January 2018

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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

21 January 2018

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Doublecortin (DCX) and doublecortin-like (DCL) are differentially expressed in the early but not late stages of murine neocortical development

21 January 2018

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Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

21 January 2018

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eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

21 January 2018

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Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome.

21 January 2018

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Familial centronuclear myopathy

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Severe neonatal asphyxia due to X-linked centronuclear myopathy

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Congenital bilateral perisylvian syndrome: familial occurrence, clinical and psycholinguistic aspects correlated with MRI.

21 January 2018

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Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

21 January 2018

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The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome

21 January 2018

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The role of cell adhesion molecule L1 in axonal extension, growth cone motility, and signal transduction

21 January 2018

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

21 January 2018

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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Glypican-3 promotes the growth of hepatocellular carcinoma by stimulating canonical Wnt signaling

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

An essential and highly conserved role for Zic3 in left-right patterning, gastrulation and convergent extension morphogenesis.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Sumoylation regulates nuclear localization and function of zinc finger transcription factor ZIC3.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

21 January 2018

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FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing

21 January 2018

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A novel X-linked form of congenital fiber-type disproportion

21 January 2018

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ATRX and the replication of structured DNA.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The chromatin remodeller ATRX: a repeat offender in human disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor β-stimulated aortic endothelial cells

21 January 2018

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The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The vesicular acetylcholine transporter is required for neuromuscular development and function

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease

21 January 2018

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MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity.

21 January 2018

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Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

21 January 2018

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doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Phosphoinositides in cell regulation and membrane dynamics

21 January 2018

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Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Daughter and her mildly affected father with Keipert syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Non-random X chromosome inactivation in Aicardi syndrome

21 January 2018

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Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis

21 January 2018

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Congenital heart defects in Aarskog syndrome

21 January 2018

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Identification of the gene for oral-facial-digital type I syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Structural studies of the doublecortin family of MAPs

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Identification of Arx transcriptional targets in the developing basal forebrain

21 January 2018

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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

21 January 2018

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X-linked situs abnormalities result from mutations in ZIC3

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.

21 January 2018

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Molecular-clinical spectrum of the ATR-X syndrome

21 January 2018

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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

21 January 2018

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Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

21 January 2018

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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

OCI-5/GPC3, a glypican encoded by a gene that is mutated in the Simpson-Golabi-Behmel overgrowth syndrome, induces apoptosis in a cell line-specific manner.

21 January 2018

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Behavioral features in young adults with FG syndrome (Opitz–Kaveggia syndrome)

21 January 2018

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Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene

21 January 2018

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Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations

21 January 2018

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New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death

21 January 2018

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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A family with severe X-linked arthrogryposis

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Medical complications in long-term survivors with X-linked myotubular myopathy.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

21 January 2018

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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

21 January 2018

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Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome

21 January 2018

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The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney

21 January 2018

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The role of the MAGUK protein CASK in neural development and synaptic function.

21 January 2018

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Calcium/calmodulin-dependent serine protein kinase and mental retardation.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Glypican-3: from the mutations of Simpson-Golabi-Behmel genetic syndrome to a tumor marker for hepatocellular carcinoma

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Genetics of the polymicrogyria syndromes.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: a new recessive syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Centronuclear (myotubular) myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Tissue-specific Expression of the L1 Cell Adhesion Molecule Is Modulated by the Neural Restrictive Silencer Element

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Neural cell recognition molecule L1: relating biological complexity to human disease mutations

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The vesicular acetylcholine transporter interacts with clathrin-associated adaptor complexes AP-1 and AP-2

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A comprehensive review of the genetic basis of cleft lip and palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Activating RNAs associate with Mediator to enhance chromatin architecture and transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Two mutations impair the stability and function of ubiquitin-activating enzyme (E1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

MTM1 mutations in X-linked myotubular myopathy

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Cloning and expression of a novel human gene, Isl-2, encoded a LIM-homeodomain protein

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis

21 January 2018

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Molecular view of 43 S complex formation and start site selection in eukaryotic translation initiation

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Fragile X and X-linked intellectual disability: four decades of discovery

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Two additional cases of the Ohdo blepharophimosis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The molecular basis of oral-facial-digital syndrome, type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Catel-Manzke syndrome: two new patients and a critical review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Language and development in FG syndrome with callosal agenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Phenotypic spectrum associated with CASK loss-of-function mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The filamins: organizers of cell structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Cell surface levels of organellar Na+/H+ exchanger isoform 6 are regulated by interaction with RACK1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Role of the MAGUK protein family in synapse formation and function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Polysplenia: a review of 146 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A missense mutation in CASK causes FG syndrome in an Italian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

CONGENITAL LARYNGEAL-ABDUCTOR PARALYSIS DUE TO NUCLEUS AMBIGUUS DYSGENESIS IN THREE BROTHERS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Malformation syndromes caused by disorders of cholesterol synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mice deficient for the vesicular acetylcholine transporter are myasthenic and have deficits in object and social recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Zebrafish Trap230/Med12 is required as a coactivator for Sox9-dependent neural crest, cartilage and ear development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Broad thumbs and halluces with deafness: a patient with Keipert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Filamin A: phenotypic diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Centronuclear myopathies: a widening concept

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Role of L1CAM for axon sprouting and branching

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Reducing body myopathy and other FHL1-related muscular disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signalling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Multiple roles for Med12 in vertebrate endoderm development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

ARX spectrum disorders: making inroads into the molecular pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

VACTERL/VATER Association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Cystic kidneys in a patient with oral-facial-digital syndrome type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Eukaryotic type translation initiation factor 2: structure-functional aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Aarskog syndrome: report of a family with review and discussion of nosology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Pleiotropic effects of ATP.Mg2+ binding in the catalytic cycle of ubiquitin-activating enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Evidence-based medicine and practice guidelines: application to genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Filamin A mutation is one cause of FG syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Cryptorchidism, chest deformities, and other congenital anomalies in three brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Hypoplasia of posterior spinal roots and dorsal spinal tracts with arthrogryposis multiplex congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Sox10 cooperates with the mediator subunit 12 during terminal differentiation of myelinating glia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Mutations in MED12 cause X-linked Ohdo syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Somatic glypican 3 (GPC3) mutations in Wilms' tumour

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Prenatal identification of a novel R937P L1CAM missense mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

S1-1/RBM10: multiplicity and cooperativity of nuclear localisation domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

CRASH Syndrome: Does It Teach Us about Neurotrophic Functions of Cell Adhesion Molecules?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Three distinct types of X-linked arthrogryposis seen in 6 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Oral–facial–digital syndromes: Review and diagnostic guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36934

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36934

1 reference

15 May 2018

1 reference

15 May 2018