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There are 10830 results for: content related to: 6p25 microdeletion: White matter abnormalities in an adult patient

  1. Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2430–2438, Andrée Delahaye, Suonavy Khung-Savatovsky, Azzedine Aboura, Fabien Guimiot, Séverine Drunat, Jean-Luc Alessandri, Marion Gérard, Pierre Bitoun, Julien Boumendil, Stéphanie Robin, Chan Huel, Romain Guilherme, Stéphane Serero, Pierre Gressens, Jacques Elion, Alain Verloes, Brigitte Benzacken, Anne-Lise Delezoide and Eva Pipiras

    Version of Record online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35548

  2. Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 2925–2932, Hidefumi Tonoki, Naoki Harada, Osamu Shimokawa, Ayako Yosozumi, Kadomi Monzaki, Kohei Satoh, Rika Kosaki, Atsushi Sato, Naomichi Matsumoto and Susumu Iizuka

    Version of Record online : 18 OCT 2011, DOI: 10.1002/ajmg.a.33858

  3. Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 5, 1 March 2006, Pages: 503–508, Katsuhiro Suzuki, Makoto Nakamura, Emi Amano, Kumiko Mokuno, Shoichiro Shirai and Hiroko Terasaki

    Version of Record online : 6 FEB 2006, DOI: 10.1002/ajmg.a.31085

  4. Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 592–601, Megumi Yoshimura-Furuhata, Akira Nishimura-Tadaki, Yoshiro Amano, Takashi Ehara, Yuko Hamasaki, Masaki Muramatsu, Seiichiro Shishido, Atsushi Aikawa, Riku Hamada, Kenji Ishikura, Hiroshi Hataya, Yoshihiko Hidaka, Shunsuke Noda, Kenichi Koike, Keiko Wakui, Yoshimitsu Fukushima, Naomichi Matsumoto, Midori Awazu, Noriko Miyake and Tomoki Kosho

    Version of Record online : 18 FEB 2015, DOI: 10.1002/ajmg.a.36942

  5. Schizophrenia in an adult with 6p25 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 11, 1 June 2006, Pages: 1208–1213, O. Caluseriu, G. Mirza, J. Ragoussis, E.W.C. Chow, D. MacCrimmon and A.S. Bassett

    Version of Record online : 26 APR 2006, DOI: 10.1002/ajmg.a.31222

  6. Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1793–1797, Elena Cellini, Vittoria Disciglio, Francesca Novara, James A. Barkovich, Maria Antonietta Mencarelli, Joussef Hayek, Alessandra Renieri, Orsetta Zuffardi and Renzo Guerrini

    Version of Record online : 7 JUN 2012, DOI: 10.1002/ajmg.a.35416

  7. The 6p subtelomere deletion syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 4, 15 November 2007, Pages: 377–382, Cheryl DeScipio

    Version of Record online : 5 OCT 2007, DOI: 10.1002/ajmg.c.30156

  8. Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 18, 15 September 2006, Pages: 1955–1959, Peter Kannu, Paul Oei, Howard R. Slater, Ouda Khammy and Salim Aftimos

    Version of Record online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31411

  9. Terminal deletion of 6p results in a recognizable phenotype

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 162–168, Ruth J. Lin, Athena M. Cherry, Kelly C. Chen, Michael Lyons, H. Eugene Hoyme and Louanne Hudgins

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.a.30784

  10. Axenfeld–Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 4, 1 February 2005, Pages: 381–385, Kenneth Maclean, James Smith, Luke St. Heaps, Nicole Chia, Rebecca Williams, Gregory B. Peters, Ella Onikul, Tim McCrossin, Ordan J. Lehmann and Lesley C. Adès

    Version of Record online : 14 JAN 2005, DOI: 10.1002/ajmg.a.30274

  11. Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 150–154, Maria Piccione, R. Antona, E. Salzano, S. Cavani, M. Malacarne, R. Morreale Bubella, M. Pierluigi, C.D. Viaggi and Giovanni Corsello

    Version of Record online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34308

  12. Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)

    American Journal of Medical Genetics

    Volume 100, Issue 3, 1 May 2001, Pages: 187–190, Amy C. Baruch and Robert P. Erickson

    Version of Record online : 9 APR 2001, DOI: 10.1002/ajmg.1256

  13. A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia

    American Journal of Medical Genetics Part A

    Volume 155, Issue 1, January 2011, Pages: 154–163, Jirair K. Bedoyan, Marci M. Lesperance, Todd Ackley, Ramaswamy K. Iyer, Jeffrey W. Innis and Vinod K. Misra

    Version of Record online : 10 DEC 2010, DOI: 10.1002/ajmg.a.33751

  14. Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher–Schinzel (3C) syndrome

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 1, 1 April 2005, Pages: 3–11, Cheryl DeScipio, Lori Schneider, Terri L. Young, Nora Wasserman, Dinah Yaeger, Fengmin Lu, Patricia G. Wheeler, Marc S. Williams, Lynn Bason, Lori Jukofsky, Ammini Menon, Ryan Geschwindt, Albert E. Chudley, Jorge Saraiva, Albert A. G. L. Schinzel, Agnes Guichet, William E. Dobyns, Annick Toutain, Nancy B. Spinner and Ian D. Krantz

    Version of Record online : 9 FEB 2005, DOI: 10.1002/ajmg.a.30573

  15. Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 2, 15 January 2005, Pages: 175–180, Cédric Le Caignec, Philippe De Mas, Marie-Claire Vincent, Michelle Bocéno, Georges Bourrouillou, Jean-Marie Rival and Albert David

    Version of Record online : 2 DEC 2004, DOI: 10.1002/ajmg.a.30409

  16. Anirdia-like phenotype caused by 6p25 dosage aberrations

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 524–528, Karthikeyan Arcot Sadagopan, Grace T. Liu, Jenina E. Capasso, Wadakarn Wuthisiri, Rosanne B. Keep and Alex V. Levin

    Version of Record online : 18 FEB 2015, DOI: 10.1002/ajmg.a.36890

  17. A case of de novo partial tetrasomy of distal 6p and review of the literature

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 17, 1 September 2007, Pages: 1978–1983, Ryan Stohler, Ellen Kucharski, Emily Farrow, Wilfredo Torres-Martinez, Paula Delk, Virginia C. Thurston and Gail H. Vance

    Version of Record online : 30 JUL 2007, DOI: 10.1002/ajmg.a.31678

  18. Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.3)

    American Journal of Medical Genetics

    Volume 90, Issue 5, 28 February 2000, Pages: 369–375, Amelia Villa, Enrique Galán Gomez, Laura Rodríguez, Ramón Hernández Rastrollo, M. Emilia Martínez Tallo and María-Luisa Martínez-Frías

    Version of Record online : 23 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000228)90:5<369::AID-AJMG5>3.0.CO;2-Y

  19. 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment

    Pediatrics International

    Volume 55, Issue 3, June 2013, Pages: 376–381, Takaya Nakane, Nakamura Kousuke, Hata Sonoko, Kamiya Yuko, Hidenori Sato, Takeo Kubota and Kanji Sugita

    Version of Record online : 18 JUN 2013, DOI: 10.1111/j.1442-200X.2012.03729.x

  20. Pediatric glaucoma terminology

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3205–3215, Anuradha Ganesh, Dang Tam Mai and Alex V. Levin

    Version of Record online : 18 SEP 2013, DOI: 10.1002/ajmg.a.35205