Literature DB >> 1218203

Autosomal dominant branchiootorenal dysplasia.

M Melnick, D Bixler, K Silk, H Yune, W E Nance.   

Abstract

Entities:  

Mesh：

Year:  1975        PMID： 1218203

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  13 in total

1.  Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development.

Authors:  Kathrin Landgraf; Frank Bollig; Mark-Oliver Trowe; Birgit Besenbeck; Christina Ebert; Dagmar Kruspe; Andreas Kispert; Frank Hänel; Christoph Englert
Journal:  Mol Cell Biol       Date:  2010-10-18       Impact factor: 4.272

2.  Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.

Authors:  Naoya Morisada; Nanna Dahl Rendtorff; Kandai Nozu; Takahiro Morishita; Takayuki Miyakawa; Tohru Matsumoto; Satoshi Hisano; Kazumoto Iijima; Lisbeth Tranebjaerg; Akira Shirahata; Masafumi Matsuo; Koichi Kusuhara
Journal:  Pediatr Nephrol       Date:  2010-02-04       Impact factor: 3.714

3.  Brachio-Oto-Renal Syndrome: CT Imaging and Intraoperative Diagnostic Findings.

Authors:  Brendan M O'Brien; Steven P Meyers; Benjamin T Crane
Journal:  Otol Neurotol       Date:  2015-07       Impact factor: 2.311

4.  Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.

Authors:  R König; S Fuchs; C Dukiet
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

5.  Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy.

Authors:  Arun N E Sundaram; Archana Abhayambika; Sunil Kumar
Journal:  Neuroophthalmology       Date:  2017-05-10

6.  Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.

Authors:  J Pao; F D'Arco; E Clement; S Picariello; G Moonis; C D Robson; A F Juliano
Journal:  AJNR Am J Neuroradiol       Date:  2022-01-20       Impact factor: 3.825

7.  End-stage renal failure associated with congenital deafness.

Authors:  Nicholas M P Annear; Daniel P Gale; Sam Loughlin; Huw R Dorkins; Patrick H Maxwell
Journal:  NDT Plus       Date:  2008-03-27

8.  BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.

Authors:  Amna Musharraf; Dagmar Kruspe; Jürgen Tomasch; Birgit Besenbeck; Christoph Englert; Kathrin Landgraf
Journal:  PLoS One       Date:  2014-01-29       Impact factor: 3.240

Review 9.  Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

Authors:  Tâmara Andrade Lindau; Ana Cláudia Vieira Cardoso; Natalia Freitas Rossi; Célia Maria Giacheti
Journal:  Int Arch Otorhinolaryngol       Date:  2013-11-05

10.  Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.

Authors:  Maddalena Gigante; Marilena d'Altilia; Eustacchio Montemurno; Sterpeta Diella; Francesca Bruno; Giuseppe S Netti; Elena Ranieri; Giovanni Stallone; Barbara Infante; Giuseppe Grandaliano; Loreto Gesualdo
Journal:  BMC Nephrol       Date:  2013-03-18       Impact factor: 2.388
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