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There are 6646 results for: content related to: Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype

  1. Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1309–1318, Anthony P.Y. Liu, Wing Fai Tang, Elizabeth T. Lau, Kelvin Y.K. Chan, Anita S.Y. Kan, Kar Yin Wong, Winnie W.Y. Tso, Khair Jalal, So Lun Lee, Christy S.K. Chau and Brian H.Y. Chung

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35909

  2. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Article first published online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

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    Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

    American Journal of Medical Genetics Part A

    Volume 170, Issue 5, May 2016, Pages: 1115–1126, Madeleine Tooley, Danielle Lynch, Francois Bernier, Jillian Parboosingh, Elizabeth Bhoj, Elaine Zackai, Alistair Calder, Nobue Itasaki, Emma Wakeling, Richard Scott, Melissa Lees, Jill Clayton-Smith, Moira Blyth, Jenny Morton, Debbie Shears, Usha Kini, Tessa Homfray, Angus Clarke, Angela Barnicoat, Colin Wallis, Rebecca Hewitson, Amaka Offiah, Michael Saunders, Simon Langton-Hewer, Tom Hilliard, Peter Davis and Sarah Smithson

    Article first published online : 12 MAR 2016, DOI: 10.1002/ajmg.a.37587

  4. Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2521–2528, KS Yeung, YY Chee, HM Luk, Anita SY Kan, Mary HY Tang, Elizabeth T Lau, Andrew Y Shuen, Ivan FM Lo, Kelvin YK Chan and Brian HY Chung

    Article first published online : 16 JUL 2014, DOI: 10.1002/ajmg.a.36670

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    Fragile X syndrome: From protein function to therapy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2809–2821, Claudia Bagni and Ben A. Oostra

    Article first published online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36241

  6. Somatic and germ-line mosaicism of deletion 15q11.2–q13 in a mother of dyzigotic twins with Angelman syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 370–376, Javier Sánchez, Raquel Fernández, Marcos Madruga, José Bernabeu-Wittel, Guillermo Antiñolo and Salud Borrego

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36281

  7. Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  8. You have full text access to this OnlineOpen article
    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Article first published online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  9. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1666–1674, Andrea Van Lierde, Francesca Menni, Maria Francesca Bedeschi, Federica Natacci, Sophie Guez, Paola Vizziello, Maria Antonella Costantino, Faustina Lalatta and Susanna Esposito

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35982

  10. A girl with incomplete Prader–Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2720–2726, Anita Morandi, Amélie Bonnefond, Stéphane Lobbens, Marco Carotenuto, Emanuele Miraglia del Giudice, Philippe Froguel and Claudio Maffeis

    Article first published online : 24 JUN 2015, DOI: 10.1002/ajmg.a.37222

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    Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2846–2854, Veerle De Wolf, Nathalie Brison, Koenraad Devriendt and Hilde Peeters

    Article first published online : 10 OCT 2013, DOI: 10.1002/ajmg.a.36209

  12. Autism and epistemology IV: Does autism need a theory of mind?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2464–2480, Gene S. Fisch

    Article first published online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36135

  13. Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader–Willi syndrome phenotype

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 425–431, Britt-Marie Anderlid, Johanna Lundin, Helena Malmgren, Mikael Lehtihet and Ann Nordgren

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36307

  14. Elements of morphology: Standard terminology for the external genitalia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1238–1263, Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain

    Article first published online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  15. Development of the human aortic arch system captured in an interactive three-dimensional reference model

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1372–1383, M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  16. Development of the human heart

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1347–1371, Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  17. Embryonic left–right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3095–3114, Kun Ma

    Article first published online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  18. Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 221–230, Chiara Castronovo, Milena Crippa, Ilaria Bestetti, Daniela Rusconi, Silvia Russo, Lidia Larizza, Roberto Sangermani, Maria Teresa Bonati and Palma Finelli

    Article first published online : 22 OCT 2014, DOI: 10.1002/ajmg.a.36815

  19. Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1459–1464, Carla Marini, Antonella Cecconi, Elisa Contini, Marilena Pantaleo, Tiziana Metitieri, Silvia Guarducci, Sabrina Giglio, Renzo Guerrini and Maurizio Genuardi

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35907

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    Mosaicism for trisomy 21: A review

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 26–39, Paulie Papavassiliou, Chariyawan Charalsawadi, Kelly Rafferty and Colleen Jackson-Cook

    Article first published online : 20 NOV 2014, DOI: 10.1002/ajmg.a.36861