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There are 23861 results for: content related to: Molecular Findings in Beckwith–Wiedemann Syndrome

  1. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1587–1594, Lindsay A. Brown, Rosemarie Rupps, Maria S. Peñaherrera, Wendy P. Robinson, Millan S. Patel, Patrice Eydoux and Cornelius F. Boerkoel

    Version of Record online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36490

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    Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 993–1001, Jennifer M. Kalish, Laura K. Conlin, Sogol Mostoufi-Moab, Alisha B. Wilkens, Surabhi Mulchandani, Kristin Zelley, Megan Kowalski, Tricia R. Bhatti, Pierre Russo, Peter Mattei, William G. Mackenzie, Virginia LiVolsi, Kim E. Nichols, Jaclyn A. Biegel, Nancy B. Spinner and Matthew A. Deardorff

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35831

  3. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1929–1939, Jennifer M. Kalish, Laura K. Conlin, Tricia R. Bhatti, Holly A. Dubbs, Mary Catherine Harris, Kosuke Izumi, Sogol Mostoufi-Moab, Surabhi Mulchandani, Sulagna Saitta, Lisa J. States, Daniel T. Swarr, Alisha B. Wilkens, Elaine H. Zackai, Kristin Zelley, Marisa S. Bartolomei, Kim E. Nichols, Andrew A. Palladino, Nancy B. Spinner and Matthew A. Deardorff

    Version of Record online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36045

  4. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2174–2182, Rebecca L. Poole, Louise E. Docherty, Abeer Al Sayegh, Almuth Caliebe, Claire Turner, Emma Baple, Emma Wakeling, Lucy Harrison, Anna Lehmann, I. Karen Temple, Deborah J.G. Mackay and On behalf of the International Clinical Imprinting Consortium

    Version of Record online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36049

  5. Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

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

    Volume 163, Issue 2, May 2013, Pages: 92–105, EDOUARD COTTEREAU, ISABELLE MORTEMOUSQUE, MARIE-PIERRE MOIZARD, LYDIE BÜRGLEN, DIDIER LACOMBE, BRIGITTE GILBERT-DUSSARDIER, SABINE SIGAUDY, ODILE BOUTE, ALBERT DAVID, LAURENCE FAIVRE, JEANNE AMIEL, ROBERT ROBERTSON, FABIANA VIANA RAMOS, ERIC BIETH, SYLVIE ODENT, BÉNÉDICTE DEMEER, MICHÉLE MATHIEU, DOMINIQUE GAILLARD, LIONEL VAN MALDERGEM, GENEVIÉVE BAUJAT, ISABELLE MAYSTADT, DELPHINE HÉRON, ALAIN VERLOES, NICOLE PHILIP, VALÉRIE CORMIER-DAIRE, MARIE-FRANÇOISE FROUTÉ, LUCILE PINSON, PATRICIA BLANCHET, PIERRE SARDA, MARJOLAINE WILLEMS, ADELINE JACQUINET, ILHAM RATBI, JENNEKE VAN DEN ENDE, MARYLIN LACKMY-PORT LIS, ALICE GOLDENBERG, DOMINIQUE BONNEAU, SYLVIE ROSSIGNOL and ANNICK TOUTAIN

    Version of Record online : 18 APR 2013, DOI: 10.1002/ajmg.c.31360

  6. Prevalence of beckwith–wiedemann syndrome in North West of Italy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2481–2486, Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Nicoletta Chiesa, Cristina Molinatto, Angelo Selicorni, Lorenzo Richiardi, Lidia Larizza, Margherita Cirillo Silengo, Andrea Riccio and Giovanni Battista Ferrero

    Version of Record online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36080

  7. Twenty-one years to the right diagnosis – clinical overlap of Simpson–Golabi–Behmel and Beckwith–Wiedemann syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 151–155, C. Knopp, S. Rudnik-Schöneborn, K. Zerres, M. Gencik, S. Spengler and T. Eggermann

    Version of Record online : 22 OCT 2014, DOI: 10.1002/ajmg.a.36825

  8. SWI/SNF chromatin remodeling complexes and cancer

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

    Volume 166, Issue 3, September 2014, Pages: 350–366, Jaclyn A. Biegel, Tracy M. Busse and Bernard E. Weissman

    Version of Record online : 28 AUG 2014, DOI: 10.1002/ajmg.c.31410

  9. Modeling anterior development in mice: Diet as modulator of risk for neural tube defects

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

    Volume 163, Issue 4, November 2013, Pages: 333–356, Claudia Kappen

    Version of Record online : 4 OCT 2013, DOI: 10.1002/ajmg.c.31380

  10. Molecular Mechanisms of Childhood Overgrowth

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

    Volume 163, Issue 2, May 2013, Pages: 71–75, KATRINA TATTON-BROWN and ROSANNA WEKSBERG

    Version of Record online : 18 APR 2013, DOI: 10.1002/ajmg.c.31362

  11. The genetics of lissencephaly

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

    Volume 166, Issue 2, June 2014, Pages: 198–210, Andrew E. Fry, Thomas D. Cushion and Daniela T. Pilz

    Version of Record online : 23 MAY 2014, DOI: 10.1002/ajmg.c.31402

  12. Developmental trajectories in 22q11.2 deletion syndrome

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

    Volume 169, Issue 2, June 2015, Pages: 172–181, Ann Swillen and Donna McDonald-McGinn

    Version of Record online : 18 MAY 2015, DOI: 10.1002/ajmg.c.31435

  13. Down syndrome: Cognitive and behavioral functioning across the lifespan

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

    Volume 169, Issue 2, June 2015, Pages: 135–149, Julie Grieco, Margaret Pulsifer, Karen Seligsohn, Brian Skotko and Alison Schwartz

    Version of Record online : 18 MAY 2015, DOI: 10.1002/ajmg.c.31439

  14. Giant breast tumors in a patient with Beckwith–Wiedemann syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 182–185, Gerarda Cappuccio, Agostina De Crescenzo, Giuseppe Ciancia, Luigi Canta, Marzia Moio, Ilaria Mataro, Valeria Varone, Guido Pettinato, Orazio Palumbo, Massimo Carella, Andrea Riccio and Nicola Brunetti-Pierri

    Version of Record online : 8 NOV 2013, DOI: 10.1002/ajmg.a.36191

  15. 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

    Version of Record online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  16. Mosaic paternal genome-wide uniparental isodisomy with down syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2463–2469, Diana Darcy, Paldeep Singh Atwal, Cathy Angell, Inder Gadi and Robert Wallerstein

    Version of Record online : 29 JUL 2015, DOI: 10.1002/ajmg.a.37187

  17. Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

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

    Volume 166, Issue 2, June 2014, Pages: 156–172, Ghayda M. Mirzaa and Annapurna Poduri

    Version of Record online : 28 MAY 2014, DOI: 10.1002/ajmg.c.31401

  18. The role of BAF (mSWI/SNF) complexes in mammalian neural development

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

    Volume 166, Issue 3, September 2014, Pages: 333–349, Esther Y. Son and Gerald R. Crabtree

    Version of Record online : 5 SEP 2014, DOI: 10.1002/ajmg.c.31416

  19. Myocardial fat overgrowth in Proteus syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 103–110, H. Hannoush, V. Sachdev, A. Brofferio, A.E. Arai, G. LaRocca, J. Sapp, S. Sidenko, C. Brenneman, L.G. Biesecker and K.M. Keppler-Noreuil

    Version of Record online : 6 NOV 2014, DOI: 10.1002/ajmg.a.36773

  20. Genetic disorders associated with postnatal microcephaly

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

    Volume 166, Issue 2, June 2014, Pages: 140–155, Laurie E. Seltzer and Alex R. Paciorkowski

    Version of Record online : 16 MAY 2014, DOI: 10.1002/ajmg.c.31400