American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

July 2009

Volume 149A, Issue 7

Pages C1–C1, fm i–fm x, 1365–1613

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Reviews
    9. Book Reviews
    10. Correspondences
    1. You have free access to this content
  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Reviews
    9. Book Reviews
    10. Correspondences
    1. You have free access to this content
  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Reviews
    9. Book Reviews
    10. Correspondences
    1. You have free access to this content
  4. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Reviews
    9. Book Reviews
    10. Correspondences
    1. Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene (pages 1365–1374)

      Zuzana Musova, Radim Mazanec, Anna Krepelova, Edvard Ehler, Jiri Vales, Radka Jaklova, Tomas Prochazka, Petr Koukal, Tatana Marikova, Josef Kraus, Marketa Havlovicova and Zdenek Sedlacek

      Version of Record online: 9 JUN 2009 | DOI: 10.1002/ajmg.a.32987

    2. Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27–35 CAG) (pages 1375–1381)

      Audrey E. Hendricks, Jeanne C. Latourelle, Kathryn L. Lunetta, L. Adrienne Cupples, Vanessa Wheeler, Marcy E. MacDonald, James F. Gusella and Richard H. Myers

      Version of Record online: 8 JUN 2009 | DOI: 10.1002/ajmg.a.32901

    3. Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion (pages 1382–1391)

      Eilis A. Boudreau, Kyle P. Johnson, Angela R. Jackman, Jan Blancato, Marjan Huizing, Claude Bendavid, MaryPat Jones, Settara C. Chandrasekharappa, Alfred J. Lewy, Ann C.M. Smith and R. Ellen Magenis

      Version of Record online: 15 JUN 2009 | DOI: 10.1002/ajmg.a.32846

    4. Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta (pages 1392–1398)

      Sema Becerik, Dilsah Cogulu, Gülnur Emingil, Ted Han, P. Suzanne Hart and Thomas C. Hart

      Version of Record online: 15 JUN 2009 | DOI: 10.1002/ajmg.a.32885

    5. Is there epidemiologic evidence to support vascular disruption as a pathogenesis of gastroschisis? (pages 1399–1406)

      Martha M. Werler, Allen A. Mitchell, Cynthia A. Moore and Margaret A. Honein

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32897

    6. Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature (pages 1407–1414)

      N. Simon Thomas, John F. Harvey, David J. Bunyan, Julia Rankin, Giedre Grigelioniene, Damien L. Bruno, Tiong Y. Tan, Susan Tomkins and Robert Hastings

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32914

    7. Narrowing critical regions and determining penetrance for selected 18q- phenotypes (pages 1421–1430)

      Jannine D. Cody, Patricia L. Heard, AnaLisa C. Crandall, Erika M. Carter, John Li, L. Jean Hardies, Jack Lancaster, Brian Perry, Robert F. Stratton, Courtney Sebold, Rebecca L. Schaub, Bridgette Soileau, Annice Hill, Minire Hasi, Peter T. Fox and Daniel E. Hale

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32899

    8. High resolution genomic analysis of 18q− using oligo-microarray comparative genomic hybridization (aCGH) (pages 1431–1437)

      Patricia L. Heard, Erika M. Carter, AnaLisa C. Crandall, Courtney Sebold, Daniel E. Hale and Jannine D. Cody

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32900

    9. Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice (pages 1438–1443)

      Maoqing Ye, Rabih Hamzeh, Amy Geddis, Nissi Varki, M. Benjamin Perryman and Paul Grossfeld

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32913

    10. Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective (pages 1444–1451)

      Imke Christiaans, Irene M. van Langen, Erwin Birnie, Gouke J. Bonsel, Arthur A.M. Wilde and Ellen M.A. Smets

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32915

    11. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes (pages 1452–1459)

      Brian Hon-Yin Chung, Stephen Tak-Sum Lam, Tony Ming-For Tong, Susanna Yuk-Han Li, Kin-Shing Lun, Daniel Hon-Chuen Chan, Susanna Fung-Shan Fok, June Siu-Fong Or, David Keith Smith, Wanling Yang and Yu-Lung Lau

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32918

    12. Somatic and germ-line mosaicism in Rubinstein–Taybi syndrome (pages 1463–1467)

      Pei-Wen Chiang, Ni-Chung Lee, Nancy Chien, Wuh-Liang Hwu, Elaine Spector and Anne Chun-Hui Tsai

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32948

  5. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Reviews
    9. Book Reviews
    10. Correspondences
    1. Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review (pages 1468–1475)

      Laura J.C.M. Van Zutven, Yolande van Bever, Carolien C.M. Van Nieuwland, Gido C.M. Huijbregts, Diane Van Opstal, Anne R.M. von Bergh, Linda J.A. Corel, Dick Tibboel, Cokkie H. Wouters and Pino J. Poddighe

      Version of Record online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32714

    2. Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review (pages 1476–1481)

      Catheline Vilain, Geert Mortier, Guy Van Vliet, Christèle Dubourg, Claudine Heinrichs, Deephti de Silva, Alain Verloes and Clarisse Baumann

      Version of Record online: 5 JUN 2009 | DOI: 10.1002/ajmg.a.32678

    3. Clinical study of two brothers with a novel 33 bp duplication in the ARX gene (pages 1482–1486)

      Michelle K. Demos, Tod Fullston, Michael W. Partington, Jozef Gécz and William T. Gibson

      Version of Record online: 8 JUN 2009 | DOI: 10.1002/ajmg.a.32851

    4. Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding (pages 1487–1493)

      Luitgard M. Graul-Neumann, Alexia Bach, Michael Albani, Hannelore Ringe, Andreas Weimann, Wolfram Kress, Olaf Hiort and Oliver Bartsch

      Version of Record online: 15 JUN 2009 | DOI: 10.1002/ajmg.a.32889

    5. Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: Case report and developmental field analysis (pages 1494–1498)

      Muhammad Subhani, Gangaram Akangire, Archana Kulkarni and Golder N. Wilson

      Version of Record online: 15 JUN 2009 | DOI: 10.1002/ajmg.a.32890

    6. You have full text access to this OnlineOpen article
      Somatic mosaicism for Duchenne dystrophy: Evidence for genetic normalization mitigating muscle symptoms (pages 1499–1503)

      Akanchha Kesari, Robert Neel, Lynne Wagoner, Brennan Harmon, Christopher Spurney and Eric P. Hoffman

      Version of Record online: 15 JUN 2009 | DOI: 10.1002/ajmg.a.32891

    7. Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH (pages 1504–1510)

      Alice Masurel-Paulet, Patrick Callier, Christel Thauvin-Robinet, Mondher Chouchane, Nathalie Mejean, Nathalie Marle, Anne-Laure Mosca, Douraied Ben Salem, Maurice Giroud, Laurent Guibaud, Frédéric Huet, Francine Mugneret and Laurence Faivre

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32904

    8. Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers (pages 1511–1515)

      L. Giordano, A. Vignoli, L. Pinelli, F. Brancati, P. Accorsi, F. Faravelli, R. Gasparotti, T. Granata, G. Giaccone, F. Inverardi, C. Frassoni, B. Dallapiccola, E.M. Valente and R. Spreafico

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32936

    9. Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication (pages 1516–1522)

      Rachel D. Burnside, Edward J. Lose, Maria G. Domínguez, Jose Sánchez-Corona, Horacio Rivera, Andrew J. Carroll and Fady M. Mikhail

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32906

    10. Two cases of trisomy 16 mosaicism ascertained postnatally (pages 1523–1528)

      Claudine Rieubland, David Francis, Leonie Houben, Sylvea Corrie, Agnes Bankier and Susan M. White

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32925

    11. Congenital bilateral amazia associated with bilateral choanal atresia (pages 1529–1531)

      Anastasios Papadimitriou, Olga Karapanou, Anna Papadopoulou, Polyxeni Nicolaidou and Andreas Fretzayas

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32935

    12. Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia (pages 1532–1538)

      Pricila Bernardi, Carla Graziadio, Rafael F.M. Rosa, Lisiane Dall'Agnol, Paulo R.G. Zen and Giorgio A. Paskulin

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32943

    13. Identification of a SUFU germline mutation in a family with Gorlin syndrome (pages 1539–1543)

      L. Pastorino, P. Ghiorzo, S. Nasti, L. Battistuzzi, R. Cusano, C. Marzocchi, M.L. Garrè, M. Clementi and G. Bianchi Scarrà

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32944

    14. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis (pages 1544–1549)

      Ariana Kariminejad, Roxana Kariminejad, Andreas Tzschach, Reinhard Ullmann, Alisho Ahmed, Alaleh Asghari-Roodsari, Shadab Salehpour, Fariba Afroozan, Hans-Hilger Ropers and Mohammad Hasan Kariminejad

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32949

  6. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Reviews
    9. Book Reviews
    10. Correspondences
    1. A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene (pages 1550–1554)

      Ming Chen, Hsiang-Hsu Kuo, Yi-Chen Huang, Yu-Yuan Ke, Shun-Ping Chang, Chih-Ping Chen, Dong-Jay Lee, Meng-Luen Lee, Mei-Hui Lee, Tze-Ho Chen, Chia-Hsiang Chen, Hui-Mei Lin, Chin-San Liu and Gwo-Chin Ma

      Version of Record online: 5 JUN 2009 | DOI: 10.1002/ajmg.a.32768

    2. Genetic counseling for teratogenic risk due to exposure to medications: 89 pregnancies conceived during oral contraceptive use (pages 1555–1557)

      Serena Belli, Silvia Mazzola, Roberto Luongo, Luca Barcella, Brunilda Alushi, Alessia Favaro and Matteo Bertelli

      Version of Record online: 5 JUN 2009 | DOI: 10.1002/ajmg.a.32608

    3. Unusual four-generation chromosome-22 rearrangement: When “normality” masks abnormality (pages 1561–1564)

      Julián Nevado, M. Luisa de Torres, Luis Fernández, M. Ángeles Mori, Amelia Villa, María Palomares, Fe García-Santiago, Elena Mansilla, Sixto García-Miñaur, Alicia Delicado and Pablo Lapunzina

      Version of Record online: 15 JUN 2009 | DOI: 10.1002/ajmg.a.32892

    4. A novel subtype of distal symphalangism affecting only the 4th finger (pages 1571–1573)

      Klaus W. Kjaer, Mehmet Tiner, Sultan Cingoz, Vasfi Karatosun, Niels Tommerup, Stefan Mundlos and Izge Gunal

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32905

    5. Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection (pages 1574–1577)

      Giorgia Esposito, Giorgia Grutter, Fabrizio Drago, Mauro W. Costa, Antonella De Santis, Giovanna Bosco, Bruno Marino, Emanuele Bellacchio, Francesca Lepri, Richard P. Harvey, Anna Sarkozy and Bruno Dallapiccola

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32907

    6. A case of Asian Indian OCA3 patient (pages 1578–1580)

      Pei-Wen Chiang, Elaine Spector and Angela Scheuerle

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32930

    7. Characteristics and frequency of seizure disorder in 56 patients with Prader–Willi syndrome (pages 1581–1584)

      Zheng Fan, Robert Greenwood, Amy Fisher, Surekha Pendyal and Cynthia M. Powell

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32934

    8. Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects (pages 1585–1589)

      K. Doudney, J. Grinham, J. Whittaker, S.A. Lynch, D. Thompson, G.E. Moore, A.J. Copp, N.D.E. Greene and P. Stanier

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32937

    9. Oculocutaneous albinism spectrum (pages 1590–1591)

      Pei-Wen Chiang, Elaine Spector and Anne Chun-Hui Tsai

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32939

    10. Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum (pages 1592–1594)

      Chayim Can Schell-Apacik, Birgit Ertl-Wagner, Axel Panzel, Kerstin Klausener, Gisbert Rausch, Maximilian Muenke, Hubertus von Voss and Ute Hehr

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32940

  7. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Reviews
    9. Book Reviews
    10. Correspondences
    1. Poland syndrome with bilateral features: Case description with review of the literature (pages 1597–1602)

      Anwar Baban, Michele Torre, Sebastiano Bianca, Anna Buluggiu, Mario Igor Rossello, Maria Grazia Calevo, Maura Valle, Roberto Ravazzolo, Vincenzo Jasonni and Margherita Lerone

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32922

  8. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Reviews
    9. Book Reviews
    10. Correspondences
    1. Book review (page 1603)

      F. Clarke Fraser

      Version of Record online: 15 JUN 2009 | DOI: 10.1002/ajmg.a.32919

    2. Book review (page 1604)

      David Stevenson

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32920

    3. Book review (page 1605)

      Jennifer Fitzpatrick

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32946

  9. Correspondences

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Reviews
    9. Book Reviews
    10. Correspondences
    1. A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis (pages 1608–1609)

      Sevim Unal, Fatma Cakmak Celik, Derya Soy, Serdar Ceylaner and Gulay Ceylaner

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32912

    2. Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia (pages 1612–1613)

      Maurice A.M. van Steensel and Annemarie H. van der Hout

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/ajmg.a.32945

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