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There are 23586 results for: content related to: Long-term observation of a patient with dominant omodysplasia

  1. 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

  2. Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson–Golabi–Behmel syndrome and germline GPC3 mutation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 993–997, Rika Kosaki, Toshiki Takenouchi, Noriko Takeda, Masayo Kagami, Kazuhiko Nakabayashi, Kenichiro Hata and Kenjiro Kosaki

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36364

  3. Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 282–284, Edouard Cottereau, Marie-Pierre Moizard, Albert David, Martine Raynaud, Nadine Marmin and Annick Toutain

    Article first published online : 8 NOV 2013, DOI: 10.1002/ajmg.a.36199

  4. You have full text access to this OnlineOpen article
    International guidelines for the management and treatment of Morquio A syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 11–25, Christian J. Hendriksz, Kenneth I. Berger, Roberto Giugliani, Paul Harmatz, Christoph Kampmann, William G. Mackenzie, Julian Raiman, Martha Solano Villarreal and Ravi Savarirayan

    Article first published online : 24 OCT 2014, DOI: 10.1002/ajmg.a.36833

  5. Simpson–Golabi–Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2–4 Duplication of the GPC3 Gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1091–1095, Dr. María Elena Mateos, Katrin Beyer, Eduardo López-Laso, Juan López Siles, Juan Luis Pérez-Navero, María José Peña, Juana Guzmán and Juliana Matas

    Article first published online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35738

  6. A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2187–2199, Peter H. Langlois, Karen B. Moffitt and Angela E. Scheuerle

    Article first published online : 10 JUN 2014, DOI: 10.1002/ajmg.a.36623

  7. 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

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36490

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    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

  9. Growth curves in Down syndrome: Implications for clinical practice

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 844–847, Fabio Bertapelli, Juan Eduardo Samur-San Martin, Ezequiel Moreira Gonçalves, Vinicius Justino de Oliveira Barbeta and Gil Guerra-Júnior

    Article first published online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36337

  10. Menkes disease in affected females: The clinical disease spectrum

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 417–420, Patroula Smpokou, Monisha Samanta, Gerard T. Berry, Leah Hecht, Elizabeth C. Engle and Uta Lichter-Konecki

    Article first published online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36853

  11. Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2197–2203, Line Granild Bie Mertz, Rikke Christensen, Ida Vogel, Jens Michael Hertz, Karen Brøndum Nielsen, Karen Grønskov and John R. Østergaard

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36058

  12. A patient with a unique frameshift mutation in GPC3, causing Simpson–Golabi–Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3121–3125, Diana D. Villarreal, Humberto Villarreal, Ana Maria Paez, Dennis Peppas, Jane Lynch, Elizabeth Roeder and George C. Powers

    Article first published online : 2 OCT 2013, DOI: 10.1002/ajmg.a.36086

  13. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2088–2094, Roseli Maria Zechi-Ceide, Priscila Padilha Moura, Salmo Raskin, Antonio Richieri-Costa and Maria Leine Guion-Almeida

    Article first published online : 9 JUL 2013, DOI: 10.1002/ajmg.a.36057

  14. Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2391–2397, Amanda S. Lindy, Caleb P. Bupp, Stephen J. McGee, Erin Steed, Roger E. Stevenson, Monica J. Basehore and Michael J. Friez

    Article first published online : 12 JUN 2014, DOI: 10.1002/ajmg.a.36647

  15. Chondrodysplasia punctata associated with maternal Sjögren syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1606–1610, Natalia Marin Huarte, Fernando Santos-Simarro, Ignacio Pastor Abascal, Sixto García-Miñaur and Felix Omeñaca

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36470

  16. A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 774–777, Guillaume Jedraszak, Muriel Girard, Antonio Mellos, Djamal-Dine Djeddi, Christophe Chardot, Audrey Vanrenterghem, Marie-Pierre Moizard, Jean Gondry, Henri Sevestre, Michele Mathieu-Dramard, Florence Lacaille and Benedicte Demeer

    Article first published online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36335

  17. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 177–181, Lucile Pinson, Linda Mannini, Marjolaine Willems, Francesco Cucco, Nicolas Sirvent, Thierry Frebourg, Valentina Quarantotti, Corinne Collet, Anouck Schneider, Pierre Sarda, David Geneviève, Jacques Puechberty, Geneviève Lefort and Antonio Musio

    Article first published online : 20 NOV 2013, DOI: 10.1002/ajmg.a.36166

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    Ring 18 molecular assessment and clinical consequences

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 54–63, Erika Carter, Patricia Heard, Minire Hasi, Bridgette Soileau, Courtney Sebold, Daniel E. Hale and Jannine D. Cody

    Article first published online : 22 OCT 2014, DOI: 10.1002/ajmg.a.36822

  19. You have free access to this content
    An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity of LBR-bone dysplasias

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 159–163, Nara Sobreira, Peggy Modaff, Gary Steel, Jing You, Sonia Nanda, Julie Hoover-Fong, David Valle and Richard M. Pauli

    Article first published online : 27 OCT 2014, DOI: 10.1002/ajmg.a.36808

  20. Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2682–2684, Ron Agatep, Cheryl Shuman, Leslie Steele, Nicole Parkinson, Rosanna Weksberg and Tracy L. Stockley

    Article first published online : 29 JUL 2014, DOI: 10.1002/ajmg.a.36682