Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity (Q33656418)

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English	Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity	scientific article

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scholarly article

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28 July 2017

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity (English)

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28 July 2017

William B. Dobyns

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28 July 2017

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Andrew Mallick

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Kathleen J Millen

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Kathleen J Millen

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Ruth Newbury-Ecob

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Ruth Newbury-Ecob

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28 July 2017

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Ali Jalali

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28 July 2017

Kimberly A Aldinger

2

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28 July 2017

Ajit Chary

3

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28 July 2017

David G McLone

4

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28 July 2017

Robin M Bowman

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28 July 2017

Luan Cong Le

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28 July 2017

Phillip Jardine

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28 July 2017

Nadereh Jafari

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28 July 2017

Eric J Russell

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28 July 2017

John Curran

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28 July 2017

Pam Nguyen

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28 July 2017

Karim Ouahchi

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28 July 2017

Charles Lee

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28 July 2017

Joao M Pina-Neto

18

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28 July 2017

John A Kessler

19

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28 July 2017

Alexander G Bassuk

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28 July 2017

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19 January 2008

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28 July 2017

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28 July 2017

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28 July 2017

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28 July 2017

237-245

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28 July 2017

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Pax3:Fkhr interferes with embryonic Pax3 and Pax7 function: implications for alveolar rhabdomyosarcoma cell of origin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Pax genes and their roles in cell differentiation and development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Autopsy findings in a severely affected infant with a 2q terminal deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Pax genes in development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Dandy-Walker syndrome: analysis of 21 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

The Dandy-Walker syndrome. A clinicopathological study based on 28 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Spinal ganglia reduction in the splotch-delayed mouse neural tube defect mutant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

21 June 2018

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0467-Y

21 January 2018

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-008-0467-Y

21 January 2018

A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

30 October 2018

Epilepsy in one family with parietal foramina: an incidental finding?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

30 October 2018

Expression pattern of PAX3 and PAX6 genes during human embryogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

30 October 2018

Familial occurrence of atretic cephaloceles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

30 October 2018

Characterization of the neural crest defect in Splotch (Sp1H) mutant mice using a lacZ transgene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

30 October 2018

Allegro version 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822644

30 October 2018

Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/18204864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/18204864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18204864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enlarged parietal foramina: association with cerebral venous and cortical anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/18204864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant occipital cephalocele

1 reference

https://pubmed.ncbi.nlm.nih.gov/18204864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18204864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A five-generation family with occipital encephalocele

1 reference

https://pubmed.ncbi.nlm.nih.gov/18204864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for novel PAX3 polymorphisms and risks of spina bifida

1 reference

https://pubmed.ncbi.nlm.nih.gov/18204864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S00439-008-0467-Y

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Europe PubMed Central

PubMed publication ID

28 July 2017

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PMC publication ID

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Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

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Europe PubMed Central

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28 July 2017

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