Literature DB >> 10991693

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

S Rickard, M Boxer, R Trompeter, M Bitner-Glindzicz.   

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Year:  2000        PMID： 10991693      PMCID： PMC1734672          DOI： 10.1136/jmg.37.8.623

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

Authors:  Esther Pohl; Ayca Aykut; Filippo Beleggia; Emin Karaca; Burak Durmaz; Katharina Keupp; Esra Arslan; Melis Palamar; Melis Palamar Onay; Gökhan Yigit; Ferda Özkinay; Bernd Wollnik
Journal:  Hum Genet       Date:  2013-07-13       Impact factor: 4.132

2.  Novel EYA1 variants causing Branchio-oto-renal syndrome.

Authors:  Kyle D Klingbeil; Christopher M Greenland; Selcuk Arslan; Arianne Llamos Paneque; Hakan Gurkan; Selma Demir Ulusal; Reza Maroofian; Andrea Carrera-Gonzalez; Stefany Montufar-Armendariz; Rosario Paredes; Nursel Elcioglu; Ibis Menendez; Mahdiyeh Behnam; Joseph Foster; Shengru Guo; Sebastian Escarfuller; Filiz Basak Cengiz; Duygu Duman; Guney Bademci; Mustafa Tekin
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2017-04-26       Impact factor: 1.675

3.  EYA1 mutation in a newborn female presenting with cardiofacial syndrome.

Authors:  N Shimasaki; K Watanabe; M Hara; K Kosaki
Journal:  Pediatr Cardiol       Date:  2004 Jul-Aug       Impact factor: 1.655

4.  Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Authors:  Laurence Heidet; Vincent Morinière; Charline Henry; Lara De Tomasi; Madeline Louise Reilly; Camille Humbert; Olivier Alibeu; Cécile Fourrage; Christine Bole-Feysot; Patrick Nitschké; Frédéric Tores; Marc Bras; Marc Jeanpierre; Christine Pietrement; Dominique Gaillard; Marie Gonzales; Robert Novo; Elise Schaefer; Joëlle Roume; Jelena Martinovic; Valérie Malan; Rémi Salomon; Sophie Saunier; Corinne Antignac; Cécile Jeanpierre
Journal:  J Am Soc Nephrol       Date:  2017-05-31       Impact factor: 10.121

5.  A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

Authors:  Daniel R Jensen; Donna M Martin; Stephen Gebarski; Trilochan Sahoo; Ellen K Brundage; A Craig Chinault; Edgar A Otto; Moumita Chaki; Friedhelm Hildebrandt; Sau Wai Cheung; Marci M Lesperance
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

6.  EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.

Authors:  Michiyo Okada; Rika Fujimaru; Noriko Morimoto; Kenichi Satomura; Yoshikazu Kaku; Kazuo Tsuzuki; Kandai Nozu; Torayuki Okuyama; Kazumoto Iijima
Journal:  Pediatr Nephrol       Date:  2006-02-21       Impact factor: 3.714

7.  Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.

Authors:  Hui Ram Kim; Mee Hyun Song; Min-A Kim; Ye-Ri Kim; Kyu-Yup Lee; Jong Kyung Sonn; Jaetae Lee; Jae Young Choi; Un-Kyung Kim
Journal:  Mol Biol Rep       Date:  2014-03-04       Impact factor: 2.316

Review 8.  Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review.

Authors:  Kirsty Biggs; Gemma Crundwell; Christopher Metcalfe; Jameel Muzaffar; Peter Monksfield; Manohar Bance
Journal:  Laryngoscope Investig Otolaryngol       Date:  2022-02-08
  8 in total

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