(Q33676997)

28 July 2017

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title

Microdeletion syndromes, balanced translocations, and gene mapping (English)

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28 July 2017

Schinzel A

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28 July 2017

language of work or name

English

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publication date

1 July 1988

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

454-462

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LISSENCEPHALY IN 2 SIBLINGS.

28 July 2017

cites work

1 reference

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Chromosome 15 in floppy infants

21 June 2018

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The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

21 June 2018

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Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

21 June 2018

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Chromosome deletion and multiple cartilaginous exostoses

21 June 2018

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Miller-Dieker syndrome: lissencephaly and monosomy 17p.

21 June 2018

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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

21 June 2018

1 reference

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Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases

21 June 2018

1 reference

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Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene

21 June 2018

1 reference

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Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Two cases of X/autosome translocation in females with incontinentia pigmenti.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.

21 June 2018

1 reference

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A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Human retinoblastoma susceptibility gene: cloning, identification, and sequence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Muscular dystrophy in girls with X;autosome translocations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Is Angelman syndrome an alternate result of del(15)(q11q13)?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Prader-Willi syndrome in siblings, due to unbalanced translocation between chromosomes 15 and 22.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Recurrence risk in the Angelman ("happy puppet") syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

The Greig cephalopolysyndactyly syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

A family with Huntington disease and reciprocal translocation 4;5.

21 June 2018

1 reference

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Structural evidence for the authenticity of the human retinoblastoma gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Sporadic bilateral retinoblastoma and 13q- chromosomal deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Aniridia Caused by a Heritable Chromosome 11 Deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Aniridia, Cataracts, and wilms' Tumor in Monozygous Twins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Chromosomal Translocation in a Mentally Deficient Child with Cryptorchidism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

[Familial Miller-Dieker syndrome and (15;17) chromosome translocation]

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22)

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050522

Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)

30 October 2018

1 reference

12 December 2020

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

12 December 2020

Cytogenetic studies of familial Prader-Willi syndrome

1 reference

12 December 2020

Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population

1 reference

12 December 2020

Aarskog syndrome: full male and female expression associated with an X-autosome translocation

1 reference

12 December 2020

Development of homozygosity for chromosome 11p markers in Wilms' tumour

1 reference

12 December 2020

Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation

1 reference

12 December 2020

Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1)

1 reference

12 December 2020

In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22

1 reference

12 December 2020

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

1 reference

12 December 2020

X;autosome translocations in females with Duchenne or Becker muscular dystrophy

1 reference

12 December 2020

Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23

1 reference

12 December 2020

DiGeorge syndrome and 22q11 rearrangements

1 reference

12 December 2020

Approaches to the prenatal diagnosis of the Prader-Willi syndrome

1 reference

12 December 2020

Menkes syndrome in a girl with X-autosome translocation

1 reference

12 December 2020

Myotonic dystrophy and chromosome translocation segregating in the same family

1 reference

12 December 2020

A final word on the tricho-rhino-phalangeal syndromes

1 reference

12 December 2020

[WAGR syndrome, Wilms' tumor, aniridia, gonadoblastoma, mental retardation: a review apropos of 2 cases]

1 reference

12 December 2020

Peripheral dysostosis (PD)--a collective concept

1 reference

12 December 2020

Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome

1 reference

12 December 2020

Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1

1 reference

12 December 2020

Aniridia—Wilms tumor association

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

1 reference

12 December 2020

Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor

1 reference

12 December 2020

Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13)

1 reference

12 December 2020

Prader-Willi syndrome associated with inversion of chromosome 15

1 reference

12 December 2020

Identifiers

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28 July 2017

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