American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 18

15 September 2008

Volume 146A, Issue 18

Pages 2313–2448

  1. Clinical Reports

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Duplication of the Rubinstein–Taybi region on 16p13.3 is associated with a distinctive phenotype (pages 2313–2317)

      Giuseppe Marangi, Vincenzo Leuzzi, Daniela Orteschi, Maria E. Grimaldi, Rosetta Lecce, Giovanni Neri and Marcella Zollino

      Article first published online: 7 AUG 2008 | DOI: 10.1002/ajmg.a.32460

  2. New Syndrome

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
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      Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability (pages 2318–2326)

      Vinaya Simha, Anil K. Agarwal, Patricia A. Aronin, Susan T. Iannaccone and Abhimanyu Garg

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32457

  3. Research Articles

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations (pages 2327–2331)

      Jae Woong Sull, Kung-Yee Liang, Jacqueline B. Hetmanski, M. Daniele Fallin, Roxanne G. Ingersoll, Ji Wan Park, Yah-Huei Wu-Chou, Philip K. Chen, Samuel S. Chong, Felicia Cheah, Vincent Yeow, Beyoung Yun Park, Sun Ha Jee, Ethylin W. Jabs, Richard Redett, Alan F. Scott and Terri H. Beaty

      Article first published online: 7 AUG 2008 | DOI: 10.1002/ajmg.a.32302

    2. Vertical transmission of a mutation in exon 1 of the WT1 gene: Lessons for genetic counseling (pages 2332–2336)

      Miriam Regev, Richard Kirk, Maya Mashevich, Zvi Bistritzer and Orit Reish

      Article first published online: 7 AUG 2008 | DOI: 10.1002/ajmg.a.32330

    3. Application of metaphase HR-CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features (pages 2361–2369)

      B. Nowakowska, P. Stankiewicz, E. Obersztyn, Z. Ou, J. Li, A.C. Chinault, M. Smyk, K. Borg, T. Mazurczak, S.W. Cheung and E. Bocian

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32475

    4. Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma (pages 2370–2375)

      Mervi Taskinen, Annamari Ranki, Eero Pukkala, Leila Jeskanen, Ilkka Kaitila and Outi Mäkitie

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32478

    5. Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype (pages 2376–2384)

      Mirjam H.H. van Roij, Shuji Mizumoto, Shuhei Yamada, Tim Morgan, M.B. Tan-Sindhunata, H. Meijers-Heijboer, J.I.L.M. Verbeke, David Markie, Kazuyuki Sugahara and Stephen P. Robertson

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32482

    6. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US (pages 2385–2389)

      D.K. Waller, A. Correa, Tuan M. Vo, Y. Wang, C. Hobbs, P.H. Langlois, K. Pearson, P.A. Romitti, G.M. Shaw and J.T. Hecht

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32485

    7. Choanal atresia associated with maternal hyperthyroidism treated with methimazole: A case–control study (pages 2390–2395)

      Pablo Barbero, Rita Valdez, Hugo Rodríguez, Carlos Tiscornia, Enrique Mansilla, Adriana Allons, Silvia Coll and Rosa Liascovich

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32497

    8. Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft (pages 2396–2406)

      Cécile Chevrier, Michel Bahuau, Claire Perret, David M. Iovannisci, Agnès Nelva, Christine Herman, Marie-Paule Vazquez, Christine Francannet, Elisabeth Robert-Gnansia, Edward J. Lammer and Sylvaine Cordier

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32505

  4. Clinical Reports

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Williams syndrome in a preterm infant with phenotype of Alagille syndrome (pages 2407–2411)

      Prakesh S. Shah, Prashanth Murthy, David Skidmore, Lisa G. Shaffer, Bassem A Bejjani and David Chitayat

      Article first published online: 7 AUG 2008 | DOI: 10.1002/ajmg.a.32356

    2. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype (pages 2412–2416)

      Khalid Al-Thihli, Teresa Rudkin, Nancy Carson, Chantal Poulin, Serge Melançon and Vazken M. Der Kaloustian

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32456

    3. A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant (pages 2417–2420)

      Andreas Roos, Miriam Elbracht, Michael Baudis, Jan Senderek, Nadine Schönherr, Thomas Eggermann and Herdit M. Schüler

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32465

  5. Research Letters

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Muscle hemorrhage in a paraplegic adult with neurofibromatosis type 1 and an associated vasculopathy (pages 2424–2426)

      Philippa C. Matthews, Alexander Jeans, Waney Squier, Usha Kini, Ivor Byren and Bridget L. Atkins

      Article first published online: 4 AUG 2008 | DOI: 10.1002/ajmg.a.32451

    2. Synergistic interaction of the OCA2 and OCA3 genes in a family (pages 2427–2430)

      Pei-Wen Chiang, Anne B. Fulton, Elaine Spector and Fuki M. Hisama

      Article first published online: 4 AUG 2008 | DOI: 10.1002/ajmg.a.32453

    3. Investigation of 4q-deletion in two unrelated patients using array CGH (pages 2431–2434)

      S.S. Kaalund, R.S. Møller, A. Tészás, M. Miranda, G. Kosztolanyi, R. Ullmann, N. Tommerup and Z. Tümer

      Article first published online: 7 AUG 2008 | DOI: 10.1002/ajmg.a.32458

    4. 10qter deletion: A new case (pages 2435–2438)

      Maria Piccione, Vincenzo Antona, Ettore Piro, Simona Cavani, Michela Malacarne, Mauro Pierluigi and Giovanni Corsello

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32467

    5. Trisomy 1 in an early pregnancy failure (pages 2439–2441)

      Ana Vičić, Damir Roje, Tomislav Strinić and Feodora Stipoljev

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32481

  6. Book Reviews

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Book review (page 2442)

      Michel Vekemans

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32455

  7. Correspondence

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Reply to Richards: “Predictive Genetic Testing of Adolescents for Huntington Disease: A Question of Autonomy and Harm” (pages 2447–2448)

      Rony E. Duncan, Lynn Gillam, Julian Savulescu, Robert Williamson, John G. Rogers and Martin B. Delatycki

      Article first published online: 12 AUG 2008 | DOI: 10.1002/ajmg.a.32480

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