American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 July 2003

Volume 120A, Issue 2

Pages 157–308

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
    1. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia (pages 157–168)

      Valentine J. Hyland, Stephen P. Robertson, Simon Flanagan, Ravi Savarirayan, Tony Roscioli, John Masel, Mark Hayes and Ian A. Glass

      Version of Record online: 11 FEB 2003 | DOI: 10.1002/ajmg.a.20012

    2. Athabascan brainstem dysgenesis syndrome (pages 169–173)

      Steve Holve, Barbara Friedman, H. Eugene Hoyme, Theodore J. Tarby, Sharon J. Johnstone, Robert P. Erickson, Carol L. Clericuzio and Christopher Cunniff

      Version of Record online: 1 APR 2003 | DOI: 10.1002/ajmg.a.20087

    3. 657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls (pages 174–179)

      Igor B. Resnick, Irina Kondratenko, Eugeni Pashanov, Alexey A. Maschan, Alexander Karachunsky, Oleg Togoev, Andrey Timakov, Alexander Polyakov, Svetlana Tverskaya, Oleg Evgrafov and Alexander G. Roumiantsev

      Version of Record online: 15 MAY 2003 | DOI: 10.1002/ajmg.a.20188

    4. Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario (pages 180–184)

      Manjula Maheshwari, R. Vijaya, Manju Ghosh, Shivaram Shastri, Madhulika Kabra and P.S.N. Menon

      Version of Record online: 11 FEB 2003 | DOI: 10.1002/ajmg.a.20014

    5. Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: A report on three patients (pages 185–190)

      Patrick Edery, Stéphane Chabrier, Irène Ceballos-Picot, Sandrine Marie, Marie-Françoise Vincent and Marc Tardieu

      Version of Record online: 5 MAY 2003 | DOI: 10.1002/ajmg.a.20176

    6. Relation between apolipoprotein E genotype, hepatitis b virus status, and thyroid status in a sample of older persons with down syndrome (pages 191–198)

      Maire E. Percy, Zoya Potyomkina, Arthur J. Dalton, Bettye Fedor, Pankaj Mehta, David F. Andrews, Tony Mazzulli, Lillian Murk, Andrew C. Warren, Robyn A. Wallace, Hien Chau, Winnie Jeng, Sharon Moalem, Lisa O'Brien, Sonia Schellenberger, Helen Tran and Linda Wu

      Version of Record online: 1 APR 2003 | DOI: 10.1002/ajmg.a.20099

    7. Population screening for cystic fibrosis: Knowledge and emotional consequences 18 months later (pages 199–208)

      Claire Gordon, Ian Walpole, Stephen R. Zubrick and Carol Bower

      Version of Record online: 20 JUN 2003 | DOI: 10.1002/ajmg.a.20259

    8. Parental attitudes regarding newborn screening of PKU and DMD (pages 209–214)

      Elizabeth Campbell and Lainie Friedman Ross

      Version of Record online: 11 APR 2003 | DOI: 10.1002/ajmg.a.20031

    9. X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum (pages 222–228)

      Francesca De Falco, Silvia Cainarca, Grazia Andolfi, Rosa Ferrentino, Caterina Berti, German Rodríguez Criado, Olaf Rittinger, Nick Dennis, Sylvie Odent, Amit Rastogi, Jan Liebelt, David Chitayat, Robin Winter, Harindar Jawanda, Andrea Ballabio, Brunella Franco and Germana Meroni

      Version of Record online: 16 JAN 2003 | DOI: 10.1002/ajmg.a.10265

    10. De novo 1q32q44 duplication and distal 1q trisomy syndrome (pages 229–233)

      Małgorzata J.M. Nowaczyk, Jane Bayani, Viola Freeman, John Watts, Jeremy Squire and Jie Xu

      Version of Record online: 6 FEB 2003 | DOI: 10.1002/ajmg.a.20028

    11. Variations in the dopamine β-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy (pages 234–236)

      Sonhae Cho, Chun-Hyung Kim, Joseph F. Cubells, Cyrus P. Zabetian, Dong-Youn Hwang, Jang-Woo Kim, Bruce M. Cohen, Italo Biaggioni, David Robertson and Kwang-Soo Kim

      Version of Record online: 5 MAY 2003 | DOI: 10.1002/ajmg.a.20194

  2. New Syndrome?

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
    1. Reticular erythrokeratoderma: A new disorder of cornification (pages 237–240)

      Peter H. Itin, Michael Moschopulos and Gabriela Richard

      Version of Record online: 7 FEB 2003 | DOI: 10.1002/ajmg.a.20036

  3. Clinical Report

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
    1. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: Report of two Caucasian siblings and literature review (pages 241–246)

      Sergei I. Bannykh, Shawn Clark Emery, Josef-Karl Gerber, Kenneth L. Jones, Kurt Benirschke and Eliezer Masliah

      Version of Record online: 13 MAY 2003 | DOI: 10.1002/ajmg.a.20192

  4. Clinical Reports

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
    1. Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation (pages 247–252)

      Adriana Piram, Daniela Ortolan, Luis Cesar Peres, João Monteiro Pina-Neto, Mariluce Riegel and Albert Schinzel

      Version of Record online: 20 JUN 2003 | DOI: 10.1002/ajmg.a.10004

    2. Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome? (pages 253–255)

      C. Nur Semerci, Pelin Zorlu, Yasar Topal, Izlem Izbudak, Candemir Karacan and Sevim Balci

      Version of Record online: 5 MAY 2003 | DOI: 10.1002/ajmg.a.20232

    3. Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients (pages 256–260)

      Peter J. Taub, James P. Bradley, Yoshio Setoguchi, Lisa Schimmenti and Henry K. Kawamoto Jr.

      Version of Record online: 8 MAY 2003 | DOI: 10.1002/ajmg.a.20240

  5. Clinical Report

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
    1. Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome) (pages 261–265)

      Hans Knoblauch, Cornelia Tennstedt, Wolfgang Brueck, Hannes Hammer, Tom Vulliamy, Inderjeet Dokal, Rüdiger Lehmann, Folker Hanefeld and Sigrid Tinschert

      Version of Record online: 11 APR 2003 | DOI: 10.1002/ajmg.a.20138

    2. Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother (pages 266–271)

      Iskra Petković, Ingeborg Barišić, Mislav Bastić, Silva Hećimović and Ružica Bago

      Version of Record online: 21 MAR 2003 | DOI: 10.1002/ajmg.a.20017

  6. Clinical Reports

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
    1. Brachyolmia and spinal stenosis (pages 272–275)

      Masza Mukamel, Boaz Karmazyn, Liat de Vries, Gadi Horev and Mordechai Shohat

      Version of Record online: 8 APR 2003 | DOI: 10.1002/ajmg.a.20204

    2. A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities (pages 276–282)

      André Mégarbané, Simon Rassi, Eliane Chouery, Valérie Delague, Gustavo Perez de Nanclares Leal, Murielle Tabet, Luis Castaño and Jacques Loiselet

      Version of Record online: 4 APR 2003 | DOI: 10.1002/ajmg.a.20077

  7. Research Articles

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
    1. Multiple macrodontic multituberculism (pages 283–285)

      Martinez R. Benjamin, Fariña S. Rodrigo and Robert J. Gorlin

      Version of Record online: 1 APR 2003 | DOI: 10.1002/ajmg.a.20102

  8. Research Letters

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
    1. Granular cell tumor in a PHTS patient with a novel germline PTEN mutation (pages 286–288)

      Cristiana Marchese, Mariapina Montera, Margherita Torrini, Marco Forni, Francesca Goldoni, Luigi Locatelli and Cristina Mareni

      Version of Record online: 9 APR 2003 | DOI: 10.1002/ajmg.a.20179

    2. Re-evaluation of kyphomelic dysplasia (pages 289–291)

      Martine Le Merrer, Valerie Cormier Daire and Pierre Maroteaux

      Version of Record online: 3 FEB 2003 | DOI: 10.1002/ajmg.a.20035

    3. 1154insTC is not a rare CFTR mutation (pages 294–295)

      Özgül M. Alper, Galen Hostetter, James Cook, Beverly Tenenholz, Evelyn Hsu, Marlyn S. Woo and Lee-Jun C. Wong

      Version of Record online: 11 FEB 2003 | DOI: 10.1002/ajmg.a.20038

    4. Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations (pages 296–298)

      Lee-Jun C. Wong, Özgül M. Alper, Bao-Tyan Wang, Mei-Hui Lee and Shin-Yu Lo

      Version of Record online: 4 MAR 2003 | DOI: 10.1002/ajmg.a.20039

  9. Book Review

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
  10. Correspondence

    1. Top of page
    2. Research Articles
    3. New Syndrome?
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Articles
    9. Research Letters
    10. Book Review
    11. Correspondence
    1. Trisomy 18 mosaicism in a woman with normal intelligence (pages 303–304)

      D. Bettio, P. Levi Setti, P. Bianchi and V. Grazioli

      Version of Record online: 29 APR 2003 | DOI: 10.1002/ajmg.a.20213

    2. Fetus with renal agenesis and smith-Lemli-Opitz syndrome (pages 305–307)

      Małgorzata J.M. Nowaczyk, Barry Eng, John S. Waye, Sandra A. Farrell and Wilma L. Sirkin

      Version of Record online: 7 FEB 2003 | DOI: 10.1002/ajmg.a.20004

    3. The genome poem (page 308)

      Robert C. Speth

      Version of Record online: 7 FEB 2003 | DOI: 10.1002/ajmg.a.20037

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