American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 November 2007

Volume 143A, Issue 22

Pages 2627–2760

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Book Reviews
    1. Congenital malformations co-occurring with hypospadias in California, 1983–1997 (pages 2627–2634)

      Wei Yang, Suzan L. Carmichael and Gary M. Shaw

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32001

    2. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa (pages 2635–2641)

      Majed Dasouki, Dessislava Markova, Robert Garola, Takako Sasaki, Noe L. Charbonneau, Lynn Y. Sakai and Mon-Li Chu

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.31980

    3. Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism (pages 2642–2650)

      Wendy R. Kates, Kevin M. Antshel, Wanda P. Fremont, Robert J. Shprintzen, Leslie A. Strunge, Courtney P. Burnette and Anne Marie Higgins

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32012

    4. The emotional effects of genetic diseases: Implications for clinical genetics (pages 2651–2661)

      Marion McAllister, Linda Davies, Katherine Payne, Stuart Nicholls, Dian Donnai and Rhona MacLeod

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32013

    5. Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann–Laband syndrome (pages 2668–2674)

      Benjamin Abo-Dalo, Hyung-Goo Kim, Melanie Roes, Margarita Stefanova, Anne Higgins, Yiping Shen, Stefan Mundlos, Bradley J. Quade, James F. Gusella and Kerstin Kutsche

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32034

    6. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability (pages 2675–2681)

      Eiji Nakashima, Joseph R. Tran, Tim J.M. Welting, Ger J.M. Pruijn, Yuichiro Hirose, Gen Nishimura, Hirofumi Ohashi, Shepherd H. Schurman, Jun Cheng, Fabio Candotti, Ramaiah Nagaraja, Shiro Ikegawa and David Schlessinger

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32053

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Book Reviews
    1. Limb body wall complex and amniotic band sequence in sibs (pages 2682–2687)

      Ronaldo Levy, Didier Lacombe, Yannick Rougier and Erick Camus

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32018

    2. Trisomy 9 mosaicism and XX sex reversal (pages 2688–2691)

      Benjamin D. Solomon, Clesson E. Turner, Darren Klugman and Susan E. Sparks

      Version of Record online: 12 OCT 2007 | DOI: 10.1002/ajmg.a.31996

    3. Complete sex reversal in a WAGR syndrome patient (pages 2692–2695)

      Cedric Le Caignec, Capucine Delnatte, Joris R. Vermeesch, Michelle Boceno, Madeleine Joubert, Francoise Lavenant, Albert David and Jean-Marie Rival

      Version of Record online: 12 OCT 2007 | DOI: 10.1002/ajmg.a.31997

    4. Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth (pages 2696–2699)

      Cedric Le Caignec, Bertrand Isidor, Ulrika de Pontbriand, Valerie David, Marie-Pierre Audrezet, Claude Ferec and Albert David

      Version of Record online: 12 OCT 2007 | DOI: 10.1002/ajmg.a.31999

    5. Genotype/phenotype correlations in two patients with 12q subtelomere deletions (pages 2700–2705)

      Dmitriy M. Niyazov, Zafar Nawaz, April N. Justice, Helga V. Toriello, Christa Lese Martin and Margaret P. Adam

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32005

    6. van den Ende–Gupta syndrome: Laryngeal abnormalities in two siblings (pages 2706–2711)

      Christopher W. Carr, Jeffrey D. Carron, Ralph S. Lachman and Omar A. Abdul-Rahman

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32007

    7. Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype (pages 2712–2715)

      Ingrid Van de Laar, Dennis Dooijes, Lies Hoefsloot, Marleen Simon, Jeanette Hoogeboom and Koenraad Devriendt

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32008

    8. Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family (pages 2716–2721)

      Linda P. Jakobsen, Reinhard Ullmann, Klaus W. Kjaer, Mary A. Knudsen, Niels Tommerup and Hans Eiberg

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32011

    9. Urorectal septum malformation sequence: Prenatal progression, clinical report, and embryology review (pages 2722–2726)

      Luis F. Escobar, Meadow Heiman, Dawn Zimmer and Holly Careskey

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.31925

    10. Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review (pages 2727–2732)

      L. Rodríguez, T. Liehr, K. Mrasek, E. Mansilla, M.L. Martínez-Fernández, A. Garcia and M.L. Martínez-Frías

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32003

    11. A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q (pages 2733–2737)

      Matteo Della Monica, Fortunato Lonardo, Francesca Faravelli, Mauro Pierluigi, Daniela Varela Luquetti, Manuela De Gregori, Orsetta Zuffardi and Gioacchino Scarano

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32006

    12. Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation (pages 2738–2743)

      Katarzyna Borg, Beata Nowakowska, Ewa Obersztyn, Sau Wai Cheung, Joanna Brycz-Witkowska, Lech Korniszewski, Tadeusz Mazurczak, Paweł Stankiewicz and Ewa Bocian

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32017

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Book Reviews
    1. Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy (pages 2744–2746)

      Jia-Chi Wang, Linda Dang, Tapas Kumar Mondal and Aneal Khan

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32004

    2. Three additional cases of the Michels syndrome (pages 2747–2750)

      Gabriela F. Leal and Eduardo V.P. Baptista

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32029

    3. Concordance analyses of twins with bladder exstrophy–epispadias complex suggest genetic etiology (pages 2751–2756)

      Heiko Reutter, Lihong Qi, John P. Gearhart, Thomas Boemers, Anne-Karoline Ebert, Wolfgang Rösch, Michael Ludwig and Simeon A. Boyadjiev

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.31975

    4. Preliminary molecular studies on blepharocheilodontic syndrome (pages 2757–2759)

      Érika L. Freitas, Ciro D. Martinhago, Ester S. Ramos, Jeffrey C. Murray and Vera L. Gil-da-Silva-Lopes

      Version of Record online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32010

  4. Book Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Book Reviews
    1. Book review (page 2760)

      Michel Vekemans

      Version of Record online: 12 OCT 2007 | DOI: 10.1002/ajmg.a.31987

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