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There are 4174 results for: content related to: Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate

  1. 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

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32159

  2. 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

    Article first published online : 1 DEC 2013, DOI: 10.1111/cga.12003

  3. You have free access to this content
    Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report

    Ultrasound in Obstetrics & Gynecology

    Volume 34, Issue 6, December 2009, Pages: 724–726, A. Benaicha, M. Dommergues, J. M. Jouannic, A. Jacquette, M. Alexandre, M. Le Merrer, H. Ducou Le Pointe and C. Garel

    Article first published online : 23 OCT 2009, DOI: 10.1002/uog.7452

  4. X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2464–2468, Alberto Casarin, Francesca Rusalen, Mara Doimo, Eva Trevisson, Silvia Carraro, Maurizio Clementi, Romano Tenconi, Eugenio Baraldi and Leonardo Salviati

    Article first published online : 16 OCT 2009, DOI: 10.1002/ajmg.a.33039

  5. Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 1, 15 September 2003, Pages: 70–75, Delaina D. Eash, David D. Weaver and Nicola Brunetti-Pierri

    Article first published online : 5 MAY 2003, DOI: 10.1002/ajmg.a.20242

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    Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 417–429, Helga V. Toriello, Miriam Erick, Jean-Luc Alessandri, Diana Bailey, Nicola Brunetti-Pierri, Helen Cox, Alan Fryer, Denise Marty, Charles McCurdy, John B. Mulliken, Helen Murphy, Joseph Omlor, Richard M. Pauli, Judith D. Ranells, Amarillis Sanchez-Valle, Ana Tobiasz, Lionel Van Maldergem and Angela E. Lin

    Article first published online : 12 FEB 2013, DOI: 10.1002/ajmg.a.35765

  7. Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype

    American Journal of Medical Genetics

    Volume 76, Issue 3, 19 March 1998, Pages: 213–216, J. Zizka, J. Charvat, A. Baxova, P. Balicek and K. Kozlowski

    Article first published online : 7 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980319)76:3<213::AID-AJMG3>3.0.CO;2-R

  8. Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

    Prenatal Diagnosis

    Volume 29, Issue 2, February 2009, Pages: 140–150, J. M. Levaillant, D. Moeglin, K. Zouiten, M. Bucourt, L. Burglen, V. Soupre, C. Baumann, M. L. Jaquemont, R. Touraine, A. Picard, E. Vuillard, N. Belarbi, J. F. Oury, A. Verloes, M. P. Vazquez, P. Labrune, A. L. Delezoide and M. Gérard-Blanluet

    Article first published online : 20 JAN 2009, DOI: 10.1002/pd.2167

  9. Brachytelephalangic chondrodysplasia punctata

    Australasian Radiology

    Volume 42, Issue 3, August 1998, Pages: 244–245, Tadeusz Bieganski and Kazimierz Kozlowski

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1440-1673.1998.tb00506.x

  10. Chondrodysplasia punctata in siblings and maternal lupus erythematosus

    Clinical Genetics

    Volume 66, Issue 6, December 2004, Pages: 545–549, K Kozlowski, D Basel and P Beighton

    Article first published online : 20 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00364.x

  11. Brachytelephalangic chondrodysplasia punctata in an extremely premature infant

    American Journal of Medical Genetics

    Volume 53, Issue 1, 15 October 1994, Pages: 81–82, Sahar Mansour, Deborah Liberman and Dr. Ian Young

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320530117

  12. Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation

    Clinical Genetics

    Volume 59, Issue 2, February 2001, Pages: 115–121, J Seidel, S Schiller, C Kelbova, V Beensen, U Orth, S Vogt, U Claussen, F Zintl and GA Rappold

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590209.x

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    Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 553–558, Miles D. Thompson, Tony Roscioli, Carlo Marcelis, Marjan M. Nezarati, Irene Stolte-Dijkstra, Frances J. Sharom, Peihua Lu, John A. Phillips, Elizabeth Sweeney, Peter N. Robinson, Peter Krawitz, Helger G. Yntema, Danielle M. Andrade, Han G. Brunner and David E.C. Cole

    Article first published online : 7 FEB 2012, DOI: 10.1002/ajmg.a.35202

  14. You have free access to this content
    Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 23, 1 December 2008, Pages: 3038–3053, David Chitayat, Sarah Keating, Dina J. Zand, Teresa Costa, Elaine H. Zackai, Earl Silverman, George Tiller, Sheila Unger, Stephen Miller, John Kingdom, Ants Toi and Cynthia J.R. Curry

    Article first published online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32554

  15. Chondrodysplasia punctata: Another possible X-linked recessive case

    American Journal of Medical Genetics

    Volume 44, Issue 6, 1 December 1992, Pages: 795–799, C. P. Bennett, A. Caroline Berry, D. J. Maxwell and Dr. Mary J. Seller

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320440615

  16. Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: A complication of hyperemesis gravidarum induced vitamin K deficiency?

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 2, 15 January 2007, Pages: 200–204, Nicola Brunetti-Pierri, Jill V. Hunter and Cornelius F. Boerkoel

    Article first published online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31573

  17. Keutel syndrome: Clinical report and literature review

    American Journal of Medical Genetics

    Volume 24, Issue 2, June 1986, Pages: 289–294, Dr. Edward J. Cormode, Malcolm Dawson, R. Brian Lowry, John M. Opitz and James F. Reynolds

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320240209

  18. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1035–1040, Katta M. Girisha, Hengameh Abdollahpour, Hitesh Shah, Gandham SriLakshmi Bhavani, John M. Graham Jr., Vijay Raju Boggula, Shubha R. Phadke and Kerstin Kutsche

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36381

  19. Retrospective diagnosis of chondrodysplasia punctata

    Australasian Radiology

    Volume 50, Issue 1, February 2006, Pages: 55–58, K Kozlowski, D Basel and P Beighton

    Article first published online : 27 FEB 2006, DOI: 10.1111/j.1440-1673.2005.01531.x

  20. Prenatal diagnosis of nonrhizomelic chondrodysplasiapunctata (Conradi-Hünermann syndrome)

    American Journal of Medical Genetics

    Volume 47, Issue 3, 1 September 1993, Pages: 426–431, Dr. Peter G. Pryde, Erawati Bawle, Francisco Brandt, Roberto Romero, Marjorie C. Treadwell and Mark I. Evans

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320470327