(Q50534793)

14 March 2018

title

Localization of the gene for branchiootorenal syndrome to chromosome 8q. (English)

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14 March 2018

branchiootorenal syndrome

main subject

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Smith RJ

1

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14 March 2018

Coppage KB

2

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14 March 2018

Ankerstjerne JK

3

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14 March 2018

Capper DT

4

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14 March 2018

Kumar S

5

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14 March 2018

Kenyon J

6

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14 March 2018

Tinley S

7

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14 March 2018

Comeau K

8

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14 March 2018

Kimberling WJ

9

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14 March 2018

publication date

1 December 1992

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14 March 2018

published in

Genomics

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14 March 2018

volume

14

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14 March 2018

issue

4

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14 March 2018

page(s)

841-844

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14 March 2018

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

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The primary structure of transcription factor TFIIIA has 12 consecutive repeats

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The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?

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A final word on the tricho-rhino-phalangeal syndromes

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A multigene family encoding several "finger" structures is present and differentially active in mammalian genomes

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The earpits-deafness syndrome. Clinical and genetic aspects

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Hereditary deafness in family with ear-pits (fistula auris congenita).

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Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies

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7 January 2021

Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss

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8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I

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Branchio-oto-renal dysplasia in three families

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A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

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Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.

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Hereditary deafness associated with branchial fistulae and external ear malformations

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Dinucleotide repeat polymorphism at the human ankyrin gene (ANK1)

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Pedigree of Anomalies in the First and the Second Branchial Cleft, Inherited According to the Laws of Mendel, and A Contribution to the Technique of the Extirpation of Congenital Lateral Fistulae Colli

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7 January 2021

Molecular genetics of Krüppel, a gene required for segmentation of the Drosophila embryo.

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7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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7 January 2021

Regional localization of mouse Abl and Mos proto-oncogenes by in situ hybridization

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7 January 2021

Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors

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7 January 2021

Pax: a murine multigene family of paired box-containing genes

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7 January 2021

Dinucleotide repeat polymorphisms at the D8S85, D8S87, and D8S88 loci

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7 January 2021

Tetranucleotide repeat polymorphism in the LPL gene

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7 January 2021

10.1016/S0888-7543(05)80102-8

Identifiers

DOI

1 reference

14 March 2018

1 reference

14 March 2018