Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems (Q24533575)

4 July 2017

0 references

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems (English)

1 reference

4 July 2017

1 reference

17

Robert M W Hofstra

1 reference

4 July 2017

15

Dick Tibboel

1 reference

4 July 2017

16

Ben A Oostra

1 reference

4 July 2017

Alice S Brooks

1

1 reference

4 July 2017

Aida M Bertoli-Avella

2

1 reference

4 July 2017

Grzegorz M Burzynski

3

1 reference

4 July 2017

Guido J Breedveld

4

1 reference

4 July 2017

Jan Osinga

5

1 reference

4 July 2017

Ludolf G Boven

6

1 reference

4 July 2017

Jane A Hurst

7

1 reference

4 July 2017

Grazia M S Mancini

8

1 reference

4 July 2017

Maarten H Lequin

9

1 reference

4 July 2017

Rene F de Coo

10

1 reference

4 July 2017

Ivana Matera

11

1 reference

4 July 2017

Esther de Graaff

12

1 reference

4 July 2017

Carel Meijers

13

1 reference

4 July 2017

Patrick J Willems

14

1 reference

4 July 2017

language of work or name

English

0 references

publication date

9 May 2005

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

77

1 reference

4 July 2017

1

1 reference

4 July 2017

120-126

1 reference

G protein-coupled receptor-dependent development of human frontal cortex

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

A simple salting out procedure for extracting DNA from human nucleated cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Polymicrogyria and absence of pineal gland due to PAX6 mutation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

TPR proteins: the versatile helix

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Easy calculations of lod scores and genetic risks on small computers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Detection and integration of genotyping errors in statistical genetics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Hirschsprung megacolon and cleft palate in two sibs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Parabiotic twin syndrome with topical isocortical disruption and gastroschisis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Autosomal recessive polymicrogyria with infantile spasms and limb deformities.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226183

Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15883926

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/431244

1 reference

release_qpu3555gmjfw5jsrwqlycqoymm

4 July 2017

0 references

PMCID

1226183

1 reference

4 July 2017

1 reference