(Q33624871)

28 July 2017

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title

Holoprosencephaly due to numeric chromosome abnormalities (English)

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28 July 2017

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4

Maximilian Muenke

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28 July 2017

Benjamin D Solomon

1

1 reference

28 July 2017

Kenneth N Rosenbaum

series ordinal

2

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28 July 2017

Jeanne M Meck

series ordinal

3

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28 July 2017

publication date

1 February 2010

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

28 July 2017

published in

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28 July 2017

volume

154C

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28 July 2017

issue

1

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28 July 2017

page(s)

146-148

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Prenatal diagnosis of triploidy associated with holoprosencephaly: a case report and review of the literature

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

Functional analysis of mutations in TGIF associated with 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=2815046

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with 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=2815046

Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

Trisomy 13 syndrome: prenatal US findings in a review of 33 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

Including prenatal diagnoses in birth defects monitoring: Experience of the Metropolitan Atlanta Congenital Defects Program.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

Evaluating the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central nervous system malformations

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

Mosaic trisomy 9 and lobar holoprosencephaly.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

Chance vs. causality in the association of Down syndrome and holoprosencephaly

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

Recurrent triploidy of maternal origin

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815046

Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004

30 October 2018

1 reference

12 December 2020

Parental and meiotic origin of triploidy in the embryonic and fetal periods

1 reference

12 December 2020

Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England

1 reference

12 December 2020

Epidemiology of triploidy in a population-based birth defects registry, Hawaii, 1986-1999

1 reference

12 December 2020

The pathology of trisomy 13 syndrome. A study of 12 cases

1 reference

12 December 2020

1 reference

12 December 2020

Prenatal diagnosis of trisomy 13: analysis of 28 cases

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.C.30232

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28 July 2017

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28 July 2017

1 reference