Pages that link to "Q18169920"
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The following pages link to Jamel Chelly (Q18169920):
Displaying 50 items.
- FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation (Q24292446) (← links)
- Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation (Q24292830) (← links)
- Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human (Q24298230) (← links)
- Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly (Q24299324) (← links)
- IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis (Q24303911) (← links)
- Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria (Q24313546) (← links)
- A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα (Q24336512) (← links)
- ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity (Q24339372) (← links)
- Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation (Q24530632) (← links)
- Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation (Q24532155) (← links)
- Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation (Q24534092) (← links)
- X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family (Q24534259) (← links)
- Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency (Q24561792) (← links)
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation (Q24613870) (← links)
- Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus (Q27301028) (← links)
- Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome (Q27324376) (← links)
- Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes (Q27329518) (← links)
- Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation (Q28186625) (← links)
- ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation (Q28215614) (← links)
- Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized (Q28240924) (← links)
- Variants in CUL4B are associated with cerebral malformations (Q28251358) (← links)
- CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy (Q28257639) (← links)
- Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects (Q28292823) (← links)
- Key clinical features to identify girls with CDKL5 mutations (Q28293847) (← links)
- Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown (Q28301198) (← links)
- Novel JARID1C/SMCX mutations in patients with X-linked mental retardation (Q28302378) (← links)
- Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability (Q28386102) (← links)
- Active caspase-8 translocates into the nucleus of apoptotic cells to inactivate poly(ADP-ribose) polymerase-2 (Q28506471) (← links)
- A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia (Q28566329) (← links)
- Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons (Q28584324) (← links)
- The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain (Q28587383) (← links)
- A shape analysis framework for neuromorphometry (Q29031951) (← links)
- De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy (Q29147426) (← links)
- Nadia Bahi-Buisson (Q30322447) (← links)
- Karine Poirier (Q30322450) (← links)
- Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway (Q30496275) (← links)
- X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family (Q30997373) (← links)
- Human disorders of cortical development: from past to present (Q31033723) (← links)
- Nonsyndromic X-linked mental retardation: where are the missing mutations? (Q34205119) (← links)
- Next generation sequencing for molecular diagnosis of neuromuscular diseases. (Q34242488) (← links)
- Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. (Q35030967) (← links)
- Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis (Q36221916) (← links)
- Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study (Q36354683) (← links)
- Pierre Billuart (Q42317159) (← links)
- Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. (Q43804873) (← links)
- WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. (Q46865198) (← links)
- Defining the phenotypic spectrum of SLC6A1 mutations (Q47189755) (← links)
- Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. (Q51318832) (← links)
- Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. (Q51756710) (← links)
- Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. (Q51770514) (← links)