Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. (Q50479778)

14 March 2018

title

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. (English)

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14 March 2018

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5

Ruth Newbury-Ecob

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14 March 2018

author name string

Ghazala Mirza

1

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Ruth R Williams

2

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Shela Mohammed

3

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Robin Clark

4

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Shari Baldinger

6

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Frances Flinter

7

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Jiannis Ragoussis

8

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14 March 2018

publication date

1 September 2004

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European Journal of Human Genetics

published in

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volume

12

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issue

9

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page(s)

718-728

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201194

exact match

0 references

cites work

Delineation of two distinct 6p deletion syndromes.

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Differential structuring of human populations for homologous X and Y microsatellite loci

21 January 2018

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Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

21 January 2018

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Two unbalanced translocations involving a common 6p25 region in two XY female patients.

21 January 2018

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A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201194

The 6p deletion syndrome: a new orofacial clefting syndrome and its implications for antenatal screening.

21 January 2018

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The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

21 January 2018

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Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles

21 January 2018

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Genetic, physical, and phenotypic characterization of the Del(13)Svea36H mouse.

21 January 2018

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Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene

21 January 2018

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The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice

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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

21 January 2018

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Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

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Neuritin: a gene induced by neural activity and neurotrophins that promotes neuritogenesis

21 January 2018

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Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

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Multiple congenital anomalies in a man with (X;6) translocation

21 January 2018

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7 January 2021

Gene dosage effects for coagulation factors XII (F12) and XIII subunit A (F13A) in a case of partial monosomy 6p resulting from a maternal pericentric inversion of chromosome 6

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7 January 2021

Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate

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7 January 2021

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201194

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14 March 2018

PubMed ID

15150541

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14 March 2018