(Q32133736)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9450876%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

review article

1 reference

title

De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9450876%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

1

1 reference

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9 November 2019

author name string

E F Schoenmakers

2

1 reference

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9 November 2019

E Smeets

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9450876%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

P Petit

4

1 reference

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9 November 2019

J P Fryns

5

1 reference

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9 November 2019

publication date

1 January 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9450876%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

9 November 2019

published in

1 reference

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9 November 2019

volume

75

1 reference

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9 November 2019

issue

2

1 reference

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9 November 2019

page(s)

153-158

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9450876%20AND%20SRC:MED&resulttype=core&format=json

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Terminal deletions of the long arm of chromosome 7: five new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Holoprosencephaly: a family showing dominant inheritance and variable expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Production of a mutation in mouse En-2 gene by homologous recombination in embryonic stem cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Engrailed, Wnt and Pax genes regulate midbrain--hindbrain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Currarino triad with a terminal deletion 7q35-->qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Caudal deficiency sequence in 7q terminal deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Congenital heart defect in a patient with deletion of chromosome 7q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

A girl with karyotype 46,XX,del(7)(pter?q32:)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

A case with a terminal deletion of the long arm of chromosome 7

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

Inheritance and phenotypic expression of a t(7;9)(q36;q34)mat

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980113%2975%3A2%3C153%3A%3AAID-AJMG6%3E3.0.CO%3B2-U

10.1002/(SICI)1096-8628(19980113)75:2<153::AID-AJMG6>3.0.CO;2-U

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9450876%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference