Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis (Q34255682)

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English	Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 July 2017

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Europe PubMed Central

Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis (English)

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Europe PubMed Central

PubMed publication ID

31 July 2017

holoprosencephaly

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based on heuristic

inferred from title

alobar holoprosencephaly

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based on heuristic

inferred from title

author name string

Chen CP

1

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Europe PubMed Central

PubMed publication ID

31 July 2017

Chern SR

2

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Europe PubMed Central

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31 July 2017

Wang W

3

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Europe PubMed Central

PubMed publication ID

31 July 2017

Lee CC

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Chen WL

5

1 reference

Europe PubMed Central

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31 July 2017

Chen LF

6

1 reference

Europe PubMed Central

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31 July 2017

Chang TY

7

1 reference

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31 July 2017

Tzen CY

8

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31 July 2017

publication date

1 May 2001

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31 July 2017

Prenatal Diagnosis

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31 July 2017

21

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31 July 2017

5

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31 July 2017

346-350

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31 July 2017

10 years of Genomics, chromosome 21, and Down syndrome

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https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

18p- syndrome and hypopituitarism

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Down syndrome phenotypes: the consequences of chromosomal imbalance

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

A high-fidelity physical map of human chromosome 21q in yeast artificial chromosomes

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Genetics of ventral forebrain development and holoprosencephaly

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Holoprosencephaly: molecular study of a California population

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Holoprosencephaly: a paradigm for the complex genetics of brain development

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos.

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Mutations in holoprosencephaly

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Report of the Fifth International Workshop on Human Chromosome 21 Mapping 1994

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Chromosome 18 translocation (18;21) (p11.1;p11.1) associated with psychosis in one family

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Identification of the origin of centromeres in whole-arm translocations using fluorescent in situ hybridization with alpha-satellite DNA probes

1 reference

https://api.crossref.org/works/10.1002%2FPD.63

21 January 2018

Identifiers

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Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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