Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review (scientific article published on 24 August 2013)

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

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

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

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

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

Q28258987

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

Q28273868

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

Q28276498

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

Q28292376

DMRT1 prevents female reprogramming in the postnatal mammalian testis

Q28585684

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

Q33862499

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

Q34191367

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

Q34327312

Evidence for evolutionary conservation of sex-determining genes

Q34459101

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

Q35143077

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

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

Q44068488

The role of RELN in lissencephaly and neuropsychiatric disease

Q48427041

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

Q50313093

Sex determination: switch and suppress.

Q51413422

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

Q51831412

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

Q51904955

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

Q51958150

Partial trisomy 3p/monosomy 9p with sex reversal

Q79874094

Prenatal diagnosis of mosaic ring chromosome 9

Q80187896

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

Q80217561

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

Q80853343

Further refinement of the candidate region for monosomy 9p syndrome

Q81245898

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

Q82438619

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

Q83736284

P433

issue

P304

page(s)

265-269

P577

publication date

2013-08-24

P1433