Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly (Q33679707)

28 July 2017

title

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly (English)

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28 July 2017

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Benzacken B

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28 July 2017

Siffroi JP

2

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28 July 2017

Le Bourhis C

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28 July 2017

Krabchi K

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28 July 2017

Joyé N

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28 July 2017

Maschino F

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28 July 2017

Viguié F

7

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28 July 2017

Soulié J

8

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28 July 2017

Gonzales M

9

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28 July 2017

Migné G

10

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28 July 2017

Bucourt M

11

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28 July 2017

Encha-Razavi F

12

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28 July 2017

Carbillon L

13

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28 July 2017

Taillemite JL

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28 July 2017

language of work or name

English

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publication date

1 November 1997

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

11

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28 July 2017

page(s)

899-903

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Isolation of cDNA and genomic clones of a human Ras-related GTP-binding protein gene and its chromosomal localization to the long arm of chromosome 7, 7q36

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Sonography of facial features of alobar and semilobar holoprosencephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Perturbation of nuclear architecture by long-distance chromosome interactions.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Good genes in bad neighbourhoods.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Long-range sclerotome induction by sonic hedgehog: direct role of the amino-terminal cleavage product and modulation by the cyclic AMP signaling pathway

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051116

Lumbosacral agenesis: clinical characteristics, imaging, and embryogenesis

30 October 2018

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12 December 2020

Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation

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12 December 2020

Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12) mat karyotype

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12 December 2020

Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991

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12 December 2020

Prenatal diagnosis of a fetus with partial monosomy 7(q34-->qter) and partial trisomy 18(q21-->qter)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.11.899

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28 July 2017

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28 July 2017

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