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1.

Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.

Morell, Robert J; Olszewski, Rafal; Tona, Risa; Leitess, Samuel; Wafa, Talah T; Taukulis, Ian; Schultz, Julie M; Thomason, Elizabeth J; Richards, Keri; Whitley, Brittany N; Hill, Connor; Saunders, Thomas; Starost, Matthew F; Fitzgerald, Tracy; Wilson, Elizabeth; Ohyama, Takahiro; Friedman, Thomas B; Hoa, Michael.

J Neurosci; 40(15): 2976-2992, 2020 04 08.

Artículo en Inglés | MEDLINE | ID: mdl-32152201

2.

Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Wafa, Talah T; Faridi, Rabia; King, Kelly A; Zalewski, Christopher; Yousaf, Rizwan; Schultz, Julie M; Morell, Robert J; Muskett, Julie; Turriff, Amy; Tsilou, Ekaterini; Griffith, Andrew J; Friedman, Thomas B; Zein, Wadih M; Brewer, Carmen C.

Clin Genet; 99(2): 226-235, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-33089500

3.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Jenkinson, Emma M; Rehman, Atteeq U; Walsh, Tom; Clayton-Smith, Jill; Lee, Kwanghyuk; Morell, Robert J; Drummond, Meghan C; Khan, Shaheen N; Naeem, Muhammad Asif; Rauf, Bushra; Billington, Neil; Schultz, Julie M; Urquhart, Jill E; Lee, Ming K; Berry, Andrew; Hanley, Neil A; Mehta, Sarju; Cilliers, Deirdre; Clayton, Peter E; Kingston, Helen; Smith, Miriam J; Warner, Thomas T; Black, Graeme C; Trump, Dorothy; Davis, Julian R E; Ahmad, Wasim; Leal, Suzanne M; Riazuddin, Sheikh; King, Mary-Claire; Friedman, Thomas B; Newman, William G.

Am J Hum Genet; 92(4): 605-13, 2013 Apr 04.

Artículo en Inglés | MEDLINE | ID: mdl-23541340

4.

A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.

Mujtaba, Ghulam; Schultz, Julie M; Imtiaz, Ayesha; Morell, Robert J; Friedman, Thomas B; Naz, Sadaf.

J Med Genet; 52(8): 548-52, 2015 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-25941349

5.

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Schultz, Julie M; Khan, Shaheen N; Ahmed, Zubair M; Riazuddin, Saima; Waryah, Ali M; Chhatre, Dhananjay; Starost, Matthew F; Ploplis, Barbara; Buckley, Stephanie; Velásquez, David; Kabra, Madhulika; Lee, Kwanghyuk; Hassan, Muhammad J; Ali, Ghazanfar; Ansar, Muhammad; Ghosh, Manju; Wilcox, Edward R; Ahmad, Wasim; Merlino, Glenn; Leal, Suzanne M; Riazuddin, Sheikh; Friedman, Thomas B; Morell, Robert J.

Am J Hum Genet; 85(1): 25-39, 2009 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-19576567

6.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schultz, Julie M; Bhatti, Rashid; Madeo, Anne C; Turriff, Amy; Muskett, Julie A; Zalewski, Christopher K; King, Kelly A; Ahmed, Zubair M; Riazuddin, Saima; Ahmad, Nazir; Hussain, Zawar; Qasim, Muhammad; Kahn, Shaheen N; Meltzer, Meira R; Liu, Xue Z; Munisamy, Murali; Ghosh, Manju; Rehm, Heidi L; Tsilou, Ekaterini T; Griffith, Andrew J; Zein, Wadih M; Brewer, Carmen C; Riazuddin, Sheikh; Friedman, Thomas B.

J Med Genet; 48(11): 767-75, 2011 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-21940737

7.

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome.

Sethna, Saumil; Zein, Wadih M; Riaz, Sehar; Giese, Arnaud Pj; Schultz, Julie M; Duncan, Todd; Hufnagel, Robert B; Brewer, Carmen C; Griffith, Andrew J; Redmond, T Michael; Riazuddin, Saima; Friedman, Thomas B; Ahmed, Zubair M.

Elife; 102021 11 09.

Artículo en Inglés | MEDLINE | ID: mdl-34751129

8.

Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

Schultz, Julie M; Yang, Yandan; Caride, Ariel J; Filoteo, Adelaida G; Penheiter, Alan R; Lagziel, Ayala; Morell, Robert J; Mohiddin, Saidi A; Fananapazir, Lameh; Madeo, Anne C; Penniston, John T; Griffith, Andrew J.

N Engl J Med; 352(15): 1557-64, 2005 Apr 14.

Artículo en Inglés | MEDLINE | ID: mdl-15829536

9.

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

Zein, Wadih M; Falsini, Benedetto; Tsilou, Ekaterina T; Turriff, Amy E; Schultz, Julie M; Friedman, Thomas B; Brewer, Carmen C; Zalewski, Christopher K; King, Kelly A; Muskett, Julie A; Rehman, Atteeq U; Morell, Robert J; Griffith, Andrew J; Sieving, Paul A.

Invest Ophthalmol Vis Sci; 56(1): 107-14, 2014 Nov 25.

Artículo en Inglés | MEDLINE | ID: mdl-25425308

10.

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Shahzad, Mohsin; Sivakumaran, Theru A; Qaiser, Tanveer A; Schultz, Julie M; Hussain, Zawar; Flanagan, Megan; Bhinder, Munir A; Kissell, Diane; Greinwald, John H; Khan, Shaheen N; Friedman, Thomas B; Zhang, Kejian; Riazuddin, Saima; Riazuddin, Sheikh; Ahmed, Zubair M.

Otolaryngol Head Neck Surg; 149(3): 478-87, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23770805

11.

Usher syndrome: hearing loss with vision loss.

Friedman, Thomas B; Schultz, Julie M; Ahmed, Zubair M; Tsilou, Ekaterini T; Brewer, Carmen C.

Adv Otorhinolaryngol; 70: 56-65, 2011.

Artículo en Inglés | MEDLINE | ID: mdl-21358186

12.

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.

Lagziel, Ayala; Ahmed, Zubair M; Schultz, Julie M; Morell, Robert J; Belyantseva, Inna A; Friedman, Thomas B.

Dev Biol; 280(2): 295-306, 2005 Apr 15.

Artículo en Inglés | MEDLINE | ID: mdl-15882574

13.

Usher syndrome type 1: genotype-phenotype relationships.

Friedman, Thomas B; Schultz, Julie M; Ahmed, Zubair M.

Retina; 25(8 Suppl): S40-S42, 2005 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-16374329

14.

Recent advances in the understanding of syndromic forms of hearing loss.

Friedman, Thomas B; Schultz, Julie M; Ben-Yosef, Tamar; Pryor, Shannon P; Lagziel, Ayala; Fisher, Rachel A; Wilcox, Edward R; Riazuddin, Saima; Ahmed, Zubair M; Belyantseva, Inna A; Griffith, Andrew J.

Ear Hear; 24(4): 289-302, 2003 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-12923420

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