Sensorineural deafness and male infertility: a contiguous gene deletion syndrome (Q79349905)

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title

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome (English)

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Ahmad Daneshi

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Hossein Najmabadi

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Richard J Smith

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author name string

Yuzhou Zhang

1

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Mahdi Malekpour

2

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Navid Al-Madani

3

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Marvam Zanganeh

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Naomi J Lohr

6

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Marzieh Mohseni

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Faezeh Mojahedi

8

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publication date

10 November 2006

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Journal of Medical Genetics

21 December 2019

published in

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volume

44

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issue

4

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page(s)

233-240

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Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequences

21 December 2019

cites work

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12 December 2020

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

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12 December 2020

Sperm morphologic features as a prognostic factor in in vitro fertilization

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12 December 2020

Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21

1 reference

12 December 2020

Factor VIII gene rearrangements in patients with severe haemophilia A.

1 reference

12 December 2020

Analysis of intron 22 inversions of the factor VIII gene in severe hemophilia A: implications for genetic counseling.

1 reference

12 December 2020

Expression of the mitochondrial creatine kinase genes

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12 December 2020

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

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12 December 2020

Genes responsible for human hereditary deafness: symphony of a thousand

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12 December 2020

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): ne

1 reference

12 December 2020

Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p.

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12 December 2020

Sensorineural hearing loss in children.

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12 December 2020

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits

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12 December 2020

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

1 reference

12 December 2020

A voltage-gated ion channel expressed specifically in spermatozoa

1 reference

12 December 2020

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

1 reference

12 December 2020

CATSPER2, a human autosomal nonsyndromic male infertility gene

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12 December 2020

Identifiers

DOI

10.1136/JMG.2006.045765

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