• Issue

    American Journal of Medical Genetics Part A: Volume 126A, Issue 3

    221-330
    30 April 2004
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Research Articles

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Exclusion of candidate genes in a family with arterial tortuosity syndrome

Rita Gardella,  Nicoletta Zoppi,  Deodato Assanelli,  Maria Lorenza Muiesan,  Sergio Barlati,  Marina Colombi, 
  • Pages: 221-228
  • First Published: 26 November 2003
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Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations

B. Gläser,  K. Shirneshan,  K. Bink,  J. Wirth,  H. Kehrer-Sawatzki,  U. Bartz,  B. Zoll,  Stefan K. Bohlander, 
  • Pages: 229-236
  • First Published: 21 October 2003
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Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey

Maria do Carmo Machado-Ferreira,  Marcelo A. Costa-Lima,  Raquel T. Boy,  Gabriela S. Esteves,  Márcia M.G. Pimentel, 
  • Pages: 237-240
  • First Published: 22 January 2004
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Sibpair studies implicate chromosome 18 in essential hypertension

Sue Rutherford,  Matthew P. Johnson,  Lyn R. Griffiths, 
  • Pages: 241-247
  • First Published: 17 December 2003
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UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis†

Katrin Rapakko,  Hannaleena Kokkonen,  Jaakko Leisti, 
  • Pages: 248-252
  • First Published: 26 November 2003
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Soft-tissue facial areas and volumes in individuals with ectodermal dysplasia: A three-dimensional non invasive assessment

Virgilio F. Ferrario,  Claudia Dellavia,  Graziano Serrao,  Chiarella Sforza, 
  • Pages: 253-260
  • First Published: 19 December 2003
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Autosomal dominant inheritance of infantile myofibromatosis

Dina J. Zand,  Dale Huff,  David Everman,  Karen Russell,  Sulagna Saitta,  Donna McDonald-McGinn,  Elaine H. Zackai, 
  • Pages: 261-266
  • First Published: 23 January 2004
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Ala67Thr polymorphism in the Agouti-related peptide gene is associated with inherited leanness in humans

Daniel L. Marks,  Nathalie Boucher,  Christian-Marc Lanouette,  Louis Pérusse,  Gregor Brookhart,  Anthony G. Comuzzie,  Yvon C. Chagnon Ph.D.,  Roger D. Cone Ph.D., 
  • Pages: 267-271
  • First Published: 04 February 2004
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Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations

Thilo Dörk,  Regina Bendix-Waltes,  Rolf-Dieter Wegner,  Markus Stumm, 
  • Pages: 272-277
  • First Published: 26 November 2003
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9q34.3 deletion syndrome in three unrelated children†

Mie Iwakoshi,  Nobuhiko Okamoto,  Naoki Harada,  Tsuyoshi Nakamura,  Shunji Yamamori,  Hiroko Fujita,  Norio Niikawa,  Dr. Naomichi Matsumoto, 
  • Pages: 278-283
  • First Published: 05 February 2004
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Ectopia lentis phenotypes and the FBN1 gene

Lesley C. Adès,  Katherine J. Holman,  Maggie S. Brett,  Matthew J. Edwards,  Bruce Bennetts, 
  • Pages: 284-289
  • First Published: 26 November 2003

Clinical Reports

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Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Keiko Akahoshi,  Richard A. Spritz,  Kazuyoshi Fukai,  Norimasa Mitsui,  Kazushige Matsushima,  Hirofumi Ohashi, 
  • Pages: 290-292
  • First Published: 24 October 2003
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Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome

Dagmar von Bubnoff,  Martina Kreiß-Nachtsheim,  Natalija Novak,  Eva Engels,  Hartmut Engels,  Claudia Behrend,  Peter Propping,  Henri de la Salle,  Thomas Bieber, 
  • Pages: 293-298
  • First Published: 26 November 2003
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von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development

Nicola Brunetti-Pierri,  Roberto Mendoza-Londono,  Maulik R. Shah,  Lefkothea Karaviti,  Brendan Lee, 
  • Pages: 299-302
  • First Published: 26 November 2003

Clinical Report

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Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq

Christel Thauvin-Robinet,  Laurence Faivre,  Véronica Cusin,  Philippe Khau Van Kien,  Patrick Callier,  Keith L. Parker,  Marc Fellous,  Joséphine Borgnon,  Emmanuel Gounot,  Frédéric Huet,  Emmanuel Sapin,  Francine Mugneret, 
  • Pages: 303-307
  • First Published: 17 December 2003

Clinical Reports

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Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

Laurence Faivre,  Martine Le Merrer,  Serges Douvier,  Nicole Laurent,  Christel Thauvin-Robinet,  Thierry Rousseau,  Inge Vereecke,  Paul Sagot,  Anne-Lise Delezoide,  Paul Coucke,  Geert Mortier, 
  • Pages: 308-312
  • First Published: 26 November 2003
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A syndrome with multiple malformations, mental retardation, and ACTH deficiency

Eero Kajantie,  Timo Otonkoski,  Sirpa Kivirikko,  Mirja Somer, 
  • Pages: 313-318
  • First Published: 24 October 2003

Research Letters

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Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p

Maria Cristina Digilio,  Isabella Torrente,  Judith A. Goodship,  Bruno Marino,  Giuseppe Novelli,  Aldo Giannotti,  Bruno Dallapiccola, 
  • Pages: 319-323
  • First Published: 09 June 2003
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Evaluation of the Cited2 gene and risk for spina bifida and congenital heart defects

Kelly A. Volcik,  Huiping Zhu,  Richard H. Finnell,  Gary M. Shaw,  Mark Canfield,  Edward J. Lammer, 
  • Pages: 324-325
  • First Published: 21 October 2003

Book Reviews

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Book review

John M. Opitz, 
  • Pages: 326-327
  • First Published: 27 January 2004

Correspondence

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Prenatal diagnosis of tetrasomy 9p

Wozhan Tang,  Brita K. Boyd,  Marybeth Hummel,  Sharon L. Wenger, 
  • Page: 328
  • First Published: 29 August 2003
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Marshall-Smith syndrome: Follow-up report of a four and a half year old male

Merlin G. Butler, 
  • Pages: 329-330
  • First Published: 24 October 2003