(Q79349905)

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21 December 2019

title

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

1 reference

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21 December 2019

1 reference

1 reference

4

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21 December 2019

Ahmad Daneshi

9

1 reference

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21 December 2019

Hossein Najmabadi

10

1 reference

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21 December 2019

Richard J Smith

11

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21 December 2019

author name string

Yuzhou Zhang

1

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21 December 2019

Mahdi Malekpour

2

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21 December 2019

Navid Al-Madani

3

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21 December 2019

Marvam Zanganeh

5

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21 December 2019

Naomi J Lohr

6

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21 December 2019

Marzieh Mohseni

7

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21 December 2019

Faezeh Mojahedi

8

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21 December 2019

publication date

10 November 2006

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Journal of Medical Genetics

21 December 2019

published in

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21 December 2019

volume

44

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21 December 2019

issue

4

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21 December 2019

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Sperm morphologic features as a prognostic factor in in vitro fertilization

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genes responsible for human hereditary deafness: symphony of a thousand

1 reference

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.

1 reference

12 December 2020

Sensorineural hearing loss in children.

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.045765

1 reference

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21 December 2019

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21 December 2019

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