(Q24318377)

EYA transcriptional coactivator and phosphatase 2

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EYA transcriptional coactivator and phosphatase 3

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anatomical structure morphogenesis

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author

Jean Weissenbach

19

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Corinne Cruaud

8

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Vasiliki Kalatzis

V Kalatzis

2

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Sonia Abdelhak

S Abdelhak

1

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Christine Petit

C Petit

20

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Didier Lacombe

D Lacombe

13

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author name string

R Heilig

3

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S Compain

4

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D Samson

5

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C Vincent

6

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D Weil

7

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I Sahly

9

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M Leibovici

10

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M Bitner-Glindzicz

11

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M Francis

12

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J Vigneron

14

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R Charachon

15

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K Boven

16

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P Bedbeder

17

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N Van Regemorter

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

18

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language of work or name

English

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publication date

February 1997

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published in

Nature Genetics

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volume

15

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issue

2

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page(s)

157-64

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cites work

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Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

20 April 2017

1 reference

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

20 April 2017

1 reference

WT-1 is required for early kidney development

20 April 2017

1 reference

Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4

20 April 2017

1 reference

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

20 April 2017

1 reference

Pairwise end sequencing: a unified approach to genomic mapping and sequencing

20 April 2017

1 reference

Defective myosin VIIA gene responsible for Usher syndrome type 1B

20 April 2017

1 reference

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

20 April 2017

1 reference

Expression of a Delta homologue in prospective neurons in the chick

20 April 2017

1 reference

Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred

20 April 2017

1 reference

7 January 2021

The BOR syndrome and renal agenesis--prenatal diagnosis and further clinical delineation

1 reference

7 January 2021

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

1 reference

7 January 2021

Phenotypic manifestations of branchio-oto-renal syndrome.

1 reference

7 January 2021

Branchio-oto-renal dysplasia in three families

1 reference

7 January 2021

Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?

1 reference

7 January 2021

The regulation of kidney development: new insights from an old model

1 reference

7 January 2021

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

1 reference

7 January 2021

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

1 reference

7 January 2021

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis

1 reference

7 January 2021

Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene

1 reference

7 January 2021

Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

1 reference

7 January 2021

The eyes absent gene: genetic control of cell survival and differentiation in the developing Drosophila eye.

1 reference

7 January 2021

Interpreting cDNA sequences: some insights from studies on translation

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7 January 2021

1 reference

7 January 2021

A simple method for displaying the hydropathic character of a protein

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7 January 2021

The human PAX6 gene is mutated in two patients with aniridia

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7 January 2021

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

7 January 2021

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

1 reference

7 January 2021

The molecular basis of genetic dominance

1 reference

7 January 2021

Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression

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7 January 2021

Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6

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7 January 2021

Transcription factors in inner ear development

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7 January 2021

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

1 reference

7 January 2021

Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome

1 reference

7 January 2021

Essential role of stromal mesenchyme in kidney morphogenesis revealed by targeted disruption of Winged Helix transcription factor BF-2

1 reference

7 January 2021

Embryology of the sheep. II. The alimentary tract and associated glands

1 reference

7 January 2021

Apoptosis in metanephric development

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7 January 2021

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

1 reference

7 January 2021

Genetic localization of Hao-1, blind-sterile (bs), and Emv-13 on mouse chromosome 2

1 reference

7 January 2021

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

1 reference

7 January 2021

A comprehensive set of sequence analysis programs for the VAX

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7 January 2021

Methods and algorithms for statistical analysis of protein sequences

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7 January 2021

A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes

1 reference

7 January 2021