American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 September 2004

Volume 129A, Issue 3

Pages 215–330

  1. Invited Comments

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Risk calculations: Still essential in the molecular age (pages 215–217)

      Susan E. Hodge and Pamela L. Flodman

      Article first published online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30059

  2. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Five years of molecular diagnosis of Fragile X syndrome (1997–2001): A collaborative study reporting 95% of the activity in France (pages 218–224)

      Valérie Biancalana, Chérif Beldjord, Agnès Taillandier, Sylvie Szpiro-Tapia, Véronica Cusin, Fabienne Gerson, Christophe Philippe and Jean-Louis Mandel

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30237

    2. Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors (pages 225–234)

      Walter E. Kaufmann, Ranon Cortell, Alice S.M. Kau, Irena Bukelis, Elaine Tierney, Robert M. Gray, Christiane Cox, George T. Capone and Pia Stanard

      Article first published online: 21 JUL 2004 | DOI: 10.1002/ajmg.a.30229

    3. Genotype/phenotype analysis in a patient with pure and complete trisomy 12p (pages 261–264)

      Walter Zumkeller, Marianne Volleth, Petra Muschke, Holger Tönnies, Anita Heller, Thomas Liehr, Peter Wieacker and Markus Stumm

      Article first published online: 11 JUN 2004 | DOI: 10.1002/ajmg.a.30125

    4. Spondylometaphyseal dysplasia with cone-rod dystrophy (pages 265–276)

      Brent A. Walters, Michael L. Raff, James Ver Hoeve, Rachel Tesser, Leonard O. Langer, Thomas D. France, Ian A. Glass and Richard M. Pauli

      Article first published online: 21 JUL 2004 | DOI: 10.1002/ajmg.a.30145

    5. Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients (pages 277–281)

      Linda Berná, Volkmar Gieselmann, Helena Poupětová, Martin Hřebíček, Milan Elleder and Jana Ledvinová

      Article first published online: 20 MAY 2004 | DOI: 10.1002/ajmg.a.30118

    6. Infantile systemic hyalinosis: A clinicopathological study (pages 282–285)

      Germán Rodríguez Criado, Antonio González-Meneses, Manuela Cañadas, Enrique Rafel, Francisco Yanes and Ignacio Gómez de Terreros

      Article first published online: 20 MAY 2004 | DOI: 10.1002/ajmg.a.30117

    7. A locus for nonspecific X-linked mental retardation mapped to a 22.3 cM region of Xp11.3-q22.3 (pages 286–289)

      Xiyu Zhang, Qiji Liu, Bingxi Chen, Chenhong Guo, Jiangxia Li, Guimin Gao, Yishou Guo and Yaoqin Gong

      Article first published online: 11 JUN 2004 | DOI: 10.1002/ajmg.a.30121

  3. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation (pages 290–293)

      Takeo Kubota, Hiroyasu Furuumi, Tomohiro Kamoda, Nobuaki Iwasaki, Naomi Tobita, Nobuko Fujiwara, Yu-ichi Goto, Akira Matsui, Hiroyuki Sasaki and Tadashi Kajii

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30135

    2. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome (pages 294–299)

      Millan S. Patel, Glenn P. Taylor, Simi Bharya, Nouriya Al-Sanna'a, Ian Adatia, David Chitayat, M.E. Suzanne Lewis and Derek G. Human

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30221

    3. Craniofacial dyssynostosis: Case report and review (pages 300–302)

      Salvatore Grosso, Rossella Vivarelli, Maria Carmela Muraca, Rosario Berardi, Silvia Marconcini, Guido Morgese and Paolo Balestri

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30186

    4. Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome (pages 303–307)

      Yanick J. Crow, R.F. Massey, J.R. Innes, P.W. Pairaudeau, C.A. Rowland Hill, C.G. Woods, M. Ali, J.H. Livingston, P. Lebon, K. Nischall, M. McEntagart, N. Hindocha and R.M. Winter

      Article first published online: 21 JUL 2004 | DOI: 10.1002/ajmg.a.30250

    5. Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality (pages 308–311)

      Kenjiro Kosaki, Kazushige Ikeda, Kei Miyakoshi, Mari Ueno, Rika Kosaki, Daisuke Takahashi, Mamoru Tanaka, Chikao Torikata, Yasunori Yoshimura and Takao Takahashi

      Article first published online: 21 JUL 2004 | DOI: 10.1002/ajmg.a.30177

    6. A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises (pages 312–315)

      L. Spruijt, J.J.M. Engelen, I.P. Bruinen-Smeijsters, J.C.M. Albrechts, J. Schrander and C.T.R.M. Schrander-Stumpel

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30185

    7. Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype (pages 316–320)

      Jirair K. Bedoyan, Leigh Anne Flore, Aziz Alkatib, Salah A. Ebrahim and Erawati V. Bawle

      Article first published online: 21 JUL 2004 | DOI: 10.1002/ajmg.a.30242

  4. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13 (pages 321–322)

      Takuya Tamame, Naoaki Hori, Hidekazu Homma, Rie Yoshida, Mikako Inokuchi, Kenjiro Kosaki, Takao Takahashi and Tomonobu Hasegawa

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30147

    2. Interaction of RET proto-oncogene codon 609 germline mutations with RET haplotypes characterized by c.135G>A alleles modifying MEN 2A or HSCR phenotypes (pages 323–325)

      Guido Fitze, Matthias Schreiber, Werner Hohenberger, Hans Peter Hümmer, Dietmar Roesner and Hans K. Schackert

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30230

    3. Fragile X syndrome phenotype with normal FMR1 gene studies (pages 326–328)

      Nigel F. Clarke, David Mowat, R. Frank Kooy, Edwin Reyniers and Rob Willemsen

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30194

  5. Book Reviews

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Book Review (page 329)

      David E.C. Cole

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30217

  6. Correspondence

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings (page 330)

      Christina Kanaka-Gantenbein, Helen Fryssira, George Chrousos and George Mastorakos

      Article first published online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30151

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