American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 March 2003

Volume 117A, Issue 2

Pages 105–201

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Research Letters
    6. Correspondence
    1. Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders (pages 105–111)

      Kory Keller, Charles Williams, Paul Wharton, Martha Paulk, Angela Bent-Williams, Brian Gray, Angie Ward, Heather Stalker, Margaret Wallace, Randy Carter and Roberto Zori

      Version of Record online: 25 NOV 2002 | DOI: 10.1002/ajmg.a.10042

    2. Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability (pages 112–115)

      Monica Marini, Roberto Cusano, Pierangela De Biasio, Francesco Caroli, Margherita Lerone, Margherita Silengo, Roberto Ravazzolo, Marco Seri and Gianni Camera

      Version of Record online: 6 JAN 2003 | DOI: 10.1002/ajmg.a.10163

    3. Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy (pages 116–121)

      Cristiana Lo Nigro, Roberto Cusano, Gian Luigi Gigli, Paola Forabosco, Mariarosaria Valente, Roberto Ravazzolo, Marina Diomedi and Marco Seri

      Version of Record online: 13 JAN 2003 | DOI: 10.1002/ajmg.a.10141

    4. Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus (pages 122–126)

      Erwin Petek, Christian Windpassinger, Monika Mach, Ludwig Rauter, Stephen W. Scherer, Klaus Wagner and Peter M. Kroisel

      Version of Record online: 11 DEC 2002 | DOI: 10.1002/ajmg.a.10155

    5. Clinical and genetic aspects of trigonocephaly: A study of 25 cases (pages 127–135)

      Cyrus Azimi, Shelley J. Kennedy, David Chitayat, Pranesh Chakraborty, Joe T.R. Clarke, Christopher Forrest and Ahmad S. Teebi

      Version of Record online: 25 NOV 2002 | DOI: 10.1002/ajmg.a.10021

    6. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families (pages 136–142)

      Ravi Savarirayan, Susan M. White, Frances R. Goodman, John M. Graham Jr., Martin B. Delatycki, Ralph S. Lachman, David L. Rimoin, David B. Everman and Matthew L. Warman

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/ajmg.a.10924

    7. Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients (pages 147–153)

      Gen Nishimura, Tomomi Honma, Takashi Shiihara, Noriyo Manabe, Eiji Nakajima, Masanori Adachi, Makoto Mikawa, Yoshimitsu Fukushima and Shiro Ikegawa

      Version of Record online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10927

    8. Early use of clinical BRCA1/2 testing: Associations with race and breast cancer risk (pages 154–160)

      Katrina Armstrong, Barbara Weber, Jill Stopfer, Kathleen Calzone, Mary Putt, James Coyne and J. Sanford Schwartz

      Version of Record online: 7 OCT 2002 | DOI: 10.1002/ajmg.a.10928

    9. X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability (pages 164–168)

      Nicola Brunetti-Pierri, Maria Vittoria Andreucci, Rosaria Tuzzi, Giovanna Roberta Vega, George Gray, Carol McKeown, Andrea Ballabio, Generoso Andria, Germana Meroni and Giancarlo Parenti

      Version of Record online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10950

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Research Letters
    6. Correspondence
    1. Oligoyric microcephaly in a child with Williams syndrome (pages 169–171)

      Francesca Faravelli, Stefano D'Arrigo, Irene Bagnasco, Angelo Selicorni, Ludovico D'Incerti, Daria Riva and Chiara Pantaleoni

      Version of Record online: 7 OCT 2002 | DOI: 10.1002/ajmg.a.10892

    2. CHARGE association and secondary hypoadrenalism (pages 177–180)

      Paul A. James, Salim Aftimos and Paul Hofman

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/ajmg.a.10917

  3. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Research Letters
    6. Correspondence
    1. Teebi hypertelorism syndrome: Additional cases (pages 181–183)

      Ligiane Alves Machado-Paula and Maria Leine Guion-Almeida

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/ajmg.a.10919

  4. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Research Letters
    6. Correspondence
    1. Mutation analysis of the MECP2 gene in patients with Rett syndrome (pages 184–187)

      Francesca L. Conforti, Rosalucia Mazzei, Angela Magariello, Alessandra Patitucci, Anna L. Gabriele, Maria Muglia, Aldo Quattrone, Agata Fiumara, Rita Barone, Lorenzo Pavone, Rita Nisticò and Loredana Mangone

      Version of Record online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10898

    2. A supernumerary chromosome 20, identified by FISH, in a male with azoospermia—cause or coincidence? (pages 188–190)

      S.E. McNerlan, Patrick J. Morrison, N. McClure and N.C. Nevin

      Version of Record online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10899

    3. An unusual family with brachydactyly (pages 191–193)

      Elias O. Silva

      Version of Record online: 7 OCT 2002 | DOI: 10.1002/ajmg.a.10903

    4. New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome? (pages 194–195)

      Daniele De Brasi, Nicola Brunetti-Pierri, Pasqua Di Micco, Generoso Andria and Gianfranco Sebastio

      Version of Record online: 7 OCT 2002 | DOI: 10.1002/ajmg.a.10936

    5. Exclusion of the SALL1 gene as a cause of branchio-oculo-facial syndrome (pages 196–198)

      Walter Just, Thea Trautmann, Annette Baumstark and Dietmar Müller

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/ajmg.a.10905

  5. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Research Letters
    6. Correspondence
    1. New case of “Apple-Peel” intestinal atresia and ocular anomalies with mosaic variegated aneuploidy (pages 200–201)

      K.L. Bower, N.R. Dennis, D. Wellesley, C.P.R. Williams, P. Hodgkins, C. Tyreman, C.E. Browne and J.C.K. Barber

      Version of Record online: 12 OCT 2001 | DOI: 10.1002/ajmg.a.10035

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