• Issue

    American Journal of Medical Genetics Part A: Volume 143A, Issue 1

    1-105
    1 January 2007
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Research Articles

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Nosology and classification of genetic skeletal disorders: 2006 revision†

Andrea Superti-Furga,  Sheila Unger,  and the Nosology Group of the International Skeletal Dysplasia Society , 
  • Pages: 1-18
  • First Published: 21 December 2006
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Neuropathic features in fragile X premutation carriers†

Elizabeth Berry-Kravis,  Christopher G. Goetz,  Maureen A. Leehey,  Randi J. Hagerman,  Lin Zhang,  Lexin Li,  Danh Nguyen,  Deborah A. Hall,  Nicole Tartaglia,  Jennifer Cogswell,  Flora Tassone,  Paul J. Hagerman, 
  • Pages: 19-26
  • First Published: 21 December 2006
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Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly†

Christina A. Gurnett,  Anne M. Bowcock,  Frederick R. Dietz,  Jose A. Morcuende,  Jeffrey C. Murray,  Matthew B. Dobbs, 
  • Pages: 27-32
  • First Published: 21 December 2006
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A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia†

Emmanuelle Sarzi,  Michael D. Brown,  Sophie Lebon,  Dominique Chretien,  Arnold Munnich,  Agnès Rotig,  Vincent Procaccio, 
  • Pages: 33-41
  • First Published: 21 December 2006
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Hematological abnormalities during the first week of life among neonates with Down syndrome: Data from a multihospital healthcare system†

E. Henry,  D. Walker,  S.E. Wiedmeier,  R.D. Christensen, 
  • Pages: 42-50
  • First Published: 21 December 2006

Clinical Reports

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Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family†

Anna Baroncini,  Pia Castelluccio,  Manuela Morleo,  Fiorenza Soli,  Brunella Franco, 
  • Pages: 51-57
  • First Published: 21 December 2006
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Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene†

A. Orrico,  L. Galli,  M.G. Obregon,  M.F. de Castro Perez,  M. Falciani,  V. Sorrentino, 
  • Pages: 58-63
  • First Published: 21 December 2006
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Anophthalmia-plus syndrome: A clinical report and review of the literature†

Imad R. Makhoul,  Michalle Soudack,  Orna Kochavi,  Joseph N. Guilburd,  Shimon Maimon,  Ruth Gershoni-Baruch, 
  • Pages: 64-68
  • First Published: 21 December 2006
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A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia†

M.L. Kulkarni,  Kannan Baskar,  Preethi M. Kulkarni, 
  • Pages: 69-75
  • First Published: 21 December 2006
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A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17†

Marketa Havlovicova,  Drahuse Novotna,  Eduard Kocarek,  Kamila Novotna,  Sarka Bendova,  Borivoj Petrak,  Michal Hrdlicka,  Zdenek Sedlacek, 
  • Pages: 76-81
  • First Published: 21 December 2006

Research Letters

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Pericentric inversion causing duplication and deletion of chromosome region 13q22 → qter in the offspring†

Siddramappa J. Patil,  Shubha R. Phadke, 
  • Pages: 82-84
  • First Published: 21 December 2006
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Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case†

Filippo Spreafico,  Monica Terenziani,  Elena Lualdi,  Paola Scarfone,  Paola Collini,  Franca Fossati-Bellani,  Eulalia Galea,  Giovanna De Vecchi,  Michele Sardella,  Gabriella Sozzi,  Paolo Radice,  Daniela Perotti, 
  • Pages: 85-88
  • First Published: 21 December 2006
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Studies with MMP9 gene promoter polymorphism and nonsyndromic cleft lip and palate†

Ariadne Letra,  Rodrigo A. da Silva,  Renato Menezes,  Ana P. de Souza,  Ana L.P.F. de Almeida,  Mari C. Sogayar,  Jose M. Granjeiro, 
  • Pages: 89-91
  • First Published: 21 December 2006
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Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8†

Raymonda Varon,  Annika Müer,  Klaus Wagner,  Hannelore Zierler,  Sigrun Sodia,  Ludwig Rauter,  Erwin Petek,  Holger Tönnies,  Haidemarie Neitzel,  Karl Sperling,  Peter M. Kroisel, 
  • Pages: 92-94
  • First Published: 21 December 2006
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Multiple primary tumors associated with chromosome 9p deletion†

Noralane M. Lindor,  Syed M. Jalal,  Seema Kumar,  Aida N. Lteif, 
  • Pages: 95-97
  • First Published: 21 December 2006
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Angelman syndrome caused by an identical familial 1,487-kb deletion†

Kanako Sato,  Mie Iwakoshi,  Osamu Shimokawa,  Haruya Sakai,  Tohru Ohta,  Shinji Saitoh,  Noriko Miyake,  Norio Niikawa,  Naoki Harada,  Hirotomo Saitsu,  Takeshi Mizuguchi,  Naomichi Matsumoto, 
  • Pages: 98-101
  • First Published: 21 December 2006

Correspondence

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Ethnicity versus early environment: Comment on ‘Early Childhood Music Education and Predisposition to Absolute Pitch: Teasing Apart Genes and Environment’ by Peter K. Gregersen, Elena Kowalsky, Nina Kohn, and Elizabeth West Marvin [2000]†

Trevor Henthorn,  Diana Deutsch, 
  • Pages: 102-103
  • First Published: 21 December 2006
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Reply to Henthorn and Deutsch: Ethnicity versus early environment: Comment on ‘Early Childhood Music Education and Predisposition to Absolute Pitch: Teasing Apart Genes and Environment’ by Peter K. Gregersen, Elena Kowalsky, Nina Kohn, and Elizabeth West Marvin [2000]†

Peter K. Gregersen,  Elena Kowalsky,  Wentian Li, 
  • Pages: 104-105
  • First Published: 21 December 2006