American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 October 2004

Volume 130A, Issue 3

Pages 221–330

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. BRCA1/2 testing in hereditary breast and ovarian cancer families: Effectiveness of problem-solving training as a counseling intervention (pages 221–227)

      Aideen McInerney-Leo, Barbara Bowles Biesecker, Donald W. Hadley, Ronald G. Kase, Therese R. Giambarresi, Elizabeth Johnson, Caryn Lerman and Jeffery P. Struewing

      Article first published online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30265

    2. Nasal dimensions in normal subjects: Conventional anthropometry versus computerized anthropometry (pages 228–233)

      Chiarella Sforza, Claudia Dellavia, Anna Colombo, Graziano Serrao and Virgilio F. Ferrario

      Article first published online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30275

    3. Soft tissue facial areas and volumes in subjects with Down syndrome (pages 234–239)

      Chiarella Sforza, Claudia Dellavia, Gianfranco Zanotti, Gianluca M. Tartaglia and Virgilio F. Ferrario

      Article first published online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30253

    4. Genetic significance of skewed X-chromosome inactivation in premature ovarian failure (pages 240–244)

      Kazuyo Sato, Shigeki Uehara, Masaki Hashiyada, Hiroshi Nabeshima, Jun-ichi Sugawara, Yukihiro Terada, Nobuo Yaegashi and Kunihiro Okamura

      Article first published online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30256

    5. Lay people's understanding of and preference against the word “mutation” (pages 245–250)

      Celeste M. Condit, Tasha Dubriwny, John Lynch and Roxanne Parrott

      Article first published online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30264

    6. Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India (pages 265–271)

      L. Leigh Field, Ajit K. Ray, Margaret E. Cooper, Toby Goldstein, Diana F. Shaw and Mary L. Marazita

      Article first published online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30252

    7. Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13 (pages 272–276)

      Ginat Narkis, Daniella Landau, Esther Manor, Khalil Elbedour, Anna Tzemach, Ma'ayan Fishelson, Dan Geiger, Rivka Ofir, Rivka Carmi and Ohad S. Birk

      Article first published online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30266

    8. Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes (pages 277–283)

      L.A. Katz, R.E. Schultz, E.V. Semina, C.P. Torfs, K.N. Krahn and J.C. Murray

      Article first published online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30329

    9. The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype (pages 284–287)

      Mustafa Tekin, Aslı Kavaz, Merih Berberoğlu, Suat Fitoz, Mesiha Ekim, Gönül Öcal and Nejat Akar

      Article first published online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30291

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. Supernumerary ring chromosome 8: Clinical and molecular cytogenetic characterization in a case report (pages 288–294)

      Eliana Demori, Raffaella Devescovi, Daniela Gambel Benussi, Silvia Dolce, Marco Carrozzi, Nicoletta Villa, Jan Miertus, Antonio Amoroso and Vanna Pecile

      Article first published online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.20677

    2. A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype (pages 295–298)

      Julian Barwell, Roberto Mazzaschi, Sue Bint, Caroline Mackie Ogilvie and Frances Elmslie

      Article first published online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30208

    3. Classical West “syndrome” phenotype with a subtelomeric 4p trisomy (pages 299–302)

      Marion Gérard-Blanluet, S. Romana, C. Munier, M. Le Lorc'h, S. Kanafani, M. Sinico, C. Touboul, J.M. Levaillant, B. Haddad, N. Lopez, F. Lelong, T. Billette de Villemeur, A. Verloes and E. Borghi

      Article first published online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30314

    4. Self-healing congenital verruciform hyperkeratosis (pages 303–306)

      Christine Léauté-Labrèze, Franck Boralevi, Mariane Cony, Jean Maleville, Didier Lacombe, Jean-Etienne Surlève-Bazeille and Alain Taïeb

      Article first published online: 14 SEP 2004 | DOI: 10.1002/ajmg.a.30236

    5. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2 (pages 307–310)

      Thomas W. Prior, Kathryn J. Swoboda, H. Denman Scott and Ashley Q. Hejmanowski

      Article first published online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30251

    6. 45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism (pages 311–314)

      Karem Nieto, Rocío Peña, Icela Palma, Luis M. Dorantes, Luis Eraña, Rebeca Alvarez, Ricardo García-Cavazos, Susana Kofman-Alfaro and Gloria Queipo

      Article first published online: 17 AUG 2004 | DOI: 10.1002/ajmg.a.30258

    7. Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister–Killian syndrome (pages 315–316)

      P. Chiurazzi, J. Bajer, E. Tabolacci, M.G. Pomponi, R. Lecce, M. Zollino and G. Neri

      Article first published online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30300

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype (pages 320–321)

      Ana Karina Bartmann, Lisandra C. Caetano, Álvaro F.L. Rios, Reginaldo A. Vila and Dr. Ester Silveira Ramos

      Article first published online: 18 AUG 2004 | DOI: 10.1002/ajmg.a.20657

    2. Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y) (pages 322–324)

      Kenji Kurosawa, Naoki Harada, Nadiya Sosonkina, Norio Niikawa, Shinji Saitoh and Naomichi Matsumoto

      Article first published online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30260

    3. Donepezil effects on language in children with Down syndrome: Results of the first 22-week pilot clinical trial (pages 325–326)

      James H. Heller, Gail A. Spiridigliozzi, P. Murali Doraiswamy, Jennifer A. Sullivan, Bythe G. Crissman and Priya S. Kishnani

      Article first published online: 21 JUL 2004 | DOI: 10.1002/ajmg.a.30184

  4. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence

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