American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 2

15 January 2008

Volume 146A, Issue 2

Pages 137–270

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. Conference Reports
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    1. The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports (pages 137–148)

      Meredith Wilson, Gregory Peters, Bruce Bennetts, George McGillivray, Zan He Wu, Christopher Poon and Elizabeth Algar

      Article first published online: 21 NOV 2007 | DOI: 10.1002/ajmg.a.32172

  2. Conference Reports

    1. Top of page
    2. Rapid Publications
    3. Conference Reports
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
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  3. Research Articles

    1. Top of page
    2. Rapid Publications
    3. Conference Reports
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    1. Neurofibromatosis 1: Analysis of the demand for prenatal diagnosis in a French cohort of 361 patients (pages 159–165)

      David Farhi, Sylvie Bastuji-Garin, Kiarash Khosrotehrani, Dominique Vidaud, Christine Bellane, Jean Revuz and Pierre Wolkenstein

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32066

    2. Retention of African American women in cancer genetics research (pages 166–173)

      Chanita Hughes Halbert, Deja Love, Tynisha Mayes, Aliya Collier, Benita Weathers, Lisa Kessler, Jill Stopfer, Deborah Bowen and Susan Domchek

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32067

    3. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) (pages 182–190)

      T.A. Briggs, G.M.H. Abdel-Salam, M. Balicki, P. Baxter, E. Bertini, N. Bishop, B.H. Browne, D. Chitayat, W.K. Chong, M.M. Eid, W. Halliday, I. Hughes, A. Klusmann-Koy, M. Kurian, K.K. Nischal, G.I. Rice, J.B.P. Stephenson, R. Surtees, J.F. Talbot, N.N. Tehrani, J.L. Tolmie, C. Toomes, M.S. van der Knaap and Y.J. Crow

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32080

    4. Noonan syndrome: Psychological and psychiatric aspects (pages 191–196)

      Willem Verhoeven, Ellen Wingbermühle, Jos Egger, Ineke Van der Burgt and Siegfried Tuinier

      Article first published online: 13 DEC 2007 | DOI: 10.1002/ajmg.a.32115

  4. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. Conference Reports
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    1. Characterization of interstitial Xp duplications in two families by tiling path array CGH (pages 197–203)

      Andreas Tzschach, Wei Chen, Fikret Erdogan, Adelheid Hoeller, Hans-Hilger Ropers, Claudio Castellan, Reinhard Ullmann and Albert Schinzel

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32070

    2. Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome (pages 208–211)

      Halima Goodwin, Brian P. Brooks and Forbes D. Porter

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32084

    3. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation (pages 212–218)

      Andreas Zankl, George Elakis, Rachel D. Susman, Garry Inglis, Glenn Gardener, Michael F. Buckley and Tony Roscioli

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32085

    4. Multiple hemangiomas in a patient with a t(3q;4p) translocation: An infrequent association with Wolf–Hirschhorn syndrome (pages 219–224)

      Sherly Pardo, Netta Blitman, Bokyung Han, Ninette Cohen, Lisa Edelmann and Kurt Hirschhorn

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32033

    5. Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3 (pages 225–232)

      William T. Gibson, Chansonette Harvard, Ying Qiao, Martin J. Somerville, M.E. Suzanne Lewis and Evica Rajcan-Separovic

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32056

    6. Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion (pages 233–237)

      Raveen Shahdadpuri, Bert de Vries, Rolph Pfundt, Nicole de Leeuw and William Reardon

      Article first published online: 13 DEC 2007 | DOI: 10.1002/ajmg.a.32088

    7. Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes (pages 238–244)

      Laura Bernardini, Chiara Palka, Caterina Ceccarini, Anna Capalbo, Irene Bottillo, Rita Mingarelli, Antonio Novelli and Bruno Dallapiccola

      Article first published online: 13 DEC 2007 | DOI: 10.1002/ajmg.a.32093

  5. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Conference Reports
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    1. Mowat-Wilson syndrome with craniosynostosis: A case report (pages 245–246)

      Margaret P. Adam, April N. Justice, Lora J.H. Bean and Paul M. Fernhoff

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32075

    2. Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism (pages 247–250)

      Daniela Bettio, Erin L. Baldwin, Romeo Carrozzo, Aglaia Vignoli, Lorraine May, Anna Venci and David H. Ledbetter

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32083

    3. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects (pages 251–253)

      Maximilian G. Posch, Andreas Perrot, Katharina Schmitt, Sebastian Mittelhaus, Eva-Maria Esenwein, Brigitte Stiller, Christian Geier, Rainer Dietz, Reinhard Geßner, Cemil Özcelik and Felix Berger

      Article first published online: 12 DEC 2007 | DOI: 10.1002/ajmg.a.32042

    4. Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation (pages 257–260)

      Loredana Boccone, Valentina Dessì, Gigliola Serra, Federica Zibordi and Georgios Loudianos

      Article first published online: 13 DEC 2007 | DOI: 10.1002/ajmg.a.32086

    5. Bile duct anomalies in a male child with Noonan syndrome: A case for ras and notch pathway synergism (pages 261–263)

      Kristen J. Rasmussen, Ivan Zador, Carrie Zabel, Ian D. Krantz and Philip F. Giampietro

      Article first published online: 13 DEC 2007 | DOI: 10.1002/ajmg.a.32110

  6. Research Reviews

    1. Top of page
    2. Rapid Publications
    3. Conference Reports
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
  7. Book Reviews

    1. Top of page
    2. Rapid Publications
    3. Conference Reports
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews

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