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There are 165568 results for: content related to: Chondrodysplasia punctata in siblings and maternal lupus erythematosus

  1. Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders

    American Journal of Medical Genetics

    Volume 43, Issue 5, 15 July 1992, Pages: 823–828, Eric A. Wulfsberg, Jerri Curtis and Carol H. Jayne

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320430514

  2. Natural history of rhizomelic chondrodysplasia punctata

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 4, 1 May 2003, Pages: 332–342, Amy L. White, Peggy Modaff, Francesca Holland-Morris and Richard M. Pauli

    Version of Record online : 27 JAN 2003, DOI: 10.1002/ajmg.a.20009

  3. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 997–1008, Michelle Nino, Claudia Matos-Miranda, Momoe Maeda, Li Chen, Judith Allanson, Christine Armour, Carol Greene, Majeeda Kamaluddeen, Debra Rita, Livija Medne, Elaine Zackai, Sahar Mansour, Andrea Superti-Furga, Amy Lewanda, Michael Bober, Kenneth Rosenbaum and Nancy Braverman

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32159

  4. X-linked dominant chondrodysplasia punctata: A case report and family studies

    American Journal of Medical Genetics

    Volume 20, Issue 1, January 1985, Pages: 137–144, R. F. Mueller, P. M. Crowle, R. A. K. Jones, B. C. C. Davison, John M. Opitz and James F. Reynolds

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320200117

  5. Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

    American Journal of Medical Genetics

    Volume 33, Issue 1, May 1989, Pages: 100–107, David Bick, Cynthia J. R. Curry, John R. McGill, Daniel F. Schorderet, Robert C. Bux and Charleen M. Moore

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320330114

  6. Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

    Prenatal Diagnosis

    Volume 19, Issue 4, April 1999, Pages: 383–385, Karen M. Brookhyser, Mark H. Lipson, Ann B. Moser, Hugo W. Moser, Ralph S. Lachman and David L. Rimoin

    Version of Record online : 26 APR 1999, DOI: 10.1002/(SICI)1097-0223(199904)19:4<383::AID-PD544>3.0.CO;2-S

  7. X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings

    Prenatal Diagnosis

    Volume 26, Issue 13, December 2006, Pages: 1235–1240, Shalini Umranikar, Phyllis Glanc, Sheila Unger, Sarah Keating, Katherine Fong, Christopher D Trevors, Diane Myles-Reid and David Chitayat

    Version of Record online : 6 NOV 2006, DOI: 10.1002/pd.1594

  8. Disorders of Keratinization

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Meral J. Arin, Daniel Hohl, Dennis R. Roop, Pages: 1025–1068, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch24

  9. Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation

    American Journal of Medical Genetics

    Volume 21, Issue 3, July 1985, Pages: 581–589, Dr. Alasdair G. W. Hunter, David L. Rimoin, Ulrike M. Koch, G. June MacDonald, David M. Cox, Ralph S. Lachman, Gerald Adomian, John M. Opitz and James F. Reynolds

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320210320

  10. X-linked dominant chondrodysplasia punctata: A peroxisomal disorder?

    American Journal of Medical Genetics

    Volume 78, Issue 3, 7 July 1998, Pages: 300–302, Callum J. Wilson and Salim Aftimos

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980707)78:3<300::AID-AJMG19>3.0.CO;2-J

  11. Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

    American Journal of Medical Genetics

    Volume 85, Issue 1, 2 July 1999, Pages: 38–47, Millan S. Patel, John W. Callahan, Sunqu Zhang, Alicia K.J. Chan, Sheila Unger, Alex V. Levin, Marie-Anne Skomorowski, Annette S. Feigenbaum, Karel O'Brien, Jonathan Hellmann, Greg Ryan, Lea Velsher and David Chitayat

    Version of Record online : 20 MAY 1999, DOI: 10.1002/(SICI)1096-8628(19990702)85:1<38::AID-AJMG8>3.0.CO;2-3

  12. Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis

    American Journal of Medical Genetics

    Volume 98, Issue 3, 22 January 2001, Pages: 250–255, S. Kumada, M. Hayashi, J. Kenmochi, S. Kurosawa, N. Shimozawa, Lisa E. Kratz, Richard I. Kelley, K. Taki and M. Okaniwa

    Version of Record online : 11 JAN 2001, DOI: 10.1002/1096-8628(20010122)98:3<250::AID-AJMG1087>3.0.CO;2-Y

  13. Mendelian Disorders of Cornification (MEDOC): The Ichthyoses

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Daniel Hohl, Mary Williams, Pages: 121.1–121.70, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch121

  14. Severe X-linked chondrodysplasia punctata in nine new female fetuses

    Prenatal Diagnosis

    Volume 35, Issue 7, July 2015, Pages: 675–684, Mathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, Marie Gonzales, Bernard Aral, Judith Saint-Onge, Nadège Gigot, Julie Desir, Caroline Daelemans, Frédérique Jossic, Sébastien Schmitt, Raphaele Mangione, Fanny Pelluard, Catherine Vincent-Delorme, Jean-Marc Labaune, Nicole Bigi, Dominique D'Olne, Anne-Lise Delezoide, Annick Toutain, Sophie Blesson, Valérie Cormier-Daire, Julien Thevenon, Salima El Chehadeh, Alice Masurel-Paulet, Nicole Joyé, Claude Vibert-Guigue, Luc Rigonnot, Thierry Rousseau, Pierre Vabres, Philippe Hervé, Antonin Lamazière, Jean-Baptiste Rivière, Laurence Faivre, Nicole Laurent and Christel Thauvin-Robinet

    Version of Record online : 30 MAR 2015, DOI: 10.1002/pd.4591

  15. Metabolic and molecular basis of peroxisomal disorders: A review

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 4, 1 May 2004, Pages: 355–375, Ronald J.A. Wanders

    Version of Record online : 14 APR 2004, DOI: 10.1002/ajmg.a.20661

  16. Provisionally unique autosomal recessive chondrodysplasia punctata syndrome

    American Journal of Medical Genetics

    Volume 47, Issue 5, 1 October 1993, Pages: 797–799, Dr. Helga V. Toriello, James V. Higgins and Theodore Miller

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320470539

  17. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

    Human Mutation

    Volume 20, Issue 4, October 2002, Pages: 284–297, Nancy Braverman, Li Chen, Paul Lin, Cassandra Obie, Gary Steel, Pamela Douglas, Pranesh K. Chakraborty, Joe T.R. Clarke, Avihu Boneh, Ann Moser, Hugo Moser and David Valle

    Version of Record online : 24 SEP 2002, DOI: 10.1002/humu.10124

  18. Chondrodysplasia punctata, tibia-metacarpal (MT) type

    American Journal of Medical Genetics

    Volume 37, Issue 2, October 1990, Pages: 200–208, M. Rittler, H. Menger and Dr. J. Spranger

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.1320370208

  19. Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports

    Clinical Genetics

    Volume 38, Issue 2, August 1990, Pages: 84–93, T. D. Wardinsky, R. A. Pagon, B. R. Powell, B. McGillivray, M. Stephan, J. Zonana and A. Moser

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1990.tb03554.x

  20. Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review

    Congenital Anomalies

    Volume 53, Issue 4, December 2013, Pages: 160–162, Daigo Ochiai, Kyoko Takamura, Gen Nishimura, Toshiyuki Ikeda, Kazumi Yakubo and Tatsuro Fukuiya

    Version of Record online : 1 DEC 2013, DOI: 10.1111/cga.12003