Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review (Q38131985)

29 August 2017

title

Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review (English)

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29 August 2017

5

Peih-Shan Wu

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29 August 2017

1

Chih-Ping Chen

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29 August 2017

9

Wayseen Wang

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29 August 2017

4

Schu-Rern Chern

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29 August 2017

7

Chen-Chi Lee

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29 August 2017

Yi-Ning Su

2

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29 August 2017

Chen-Yu Chen

series ordinal

3

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29 August 2017

Jun-Wei Su

series ordinal

6

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29 August 2017

Li-Feng Chen

series ordinal

8

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29 August 2017

publication date

24 August 2013

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29 August 2017

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29 August 2017

volume

102

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29 August 2017

issue

4

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29 August 2017

page(s)

265-269

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Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

29 August 2017

cites work

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https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Further refinement of the candidate region for monosomy 9p syndrome

7 January 2021

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https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder

7 January 2021

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https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH

7 January 2021

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https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Partial trisomy 3p/monosomy 9p with sex reversal

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Prenatal diagnosis of mosaic ring chromosome 9

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Gonadoblastoma in a patient with del(9)(p22) and sex reversal: report of a case and review of the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

7 January 2021

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https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

The role of RELN in lissencephaly and neuropsychiatric disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Sex Determination: Switch and Suppress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

DMRT1 prevents female reprogramming in the postnatal mammalian testis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Analysis of meiosis regulators in human gonads: a sexually dimorphic spatio-temporal expression pattern suggests involvement of DMRT1 in meiotic entry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Evidence for evolutionary conservation of sex-determining genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

Nuclear import of human sexual regulator DMRT1 is mediated by importin-beta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YGENO.2013.08.003

10.1016/J.YGENO.2013.08.003

7 January 2021

Identifiers

DOI

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29 August 2017

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