American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 August 1994

Volume 52, Issue 2

Pages fmi–fmi, 123–255

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520201

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Epidemiology of congenital hydrocephalus in Utah, 1940–1979: Report of an iatrogenically related “epidemic” (pages 123–129)

      Brent L. Blackburn and Dr. Robert M. Fineman

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520202

    2. Marked female predilection in some syndromes associated with facial hemangiomas (pages 130–135)

      Robert J. Gorlin, Piranit Kantaputra, David J. Aughton and John B. Mulliken

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520203

    3. Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46,X,+ mar: Additional support for the loss of the X-inactivation center hypothesis (pages 136–145)

      Heath Cole, Bing Huang, Bonnie Anne Salbert, Judith Brown, Patricia N. Howard-Peebles, Susan H. Black, Andrew Dorfmann, Oscar R. Febles, Cathy A. Stevens and Colleen Jackson-Cook

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520204

    4. Arylsulfatase a psedodeficiency: A common polymorphism which is associated with a unique haplotype (pages 146–150)

      Joël Zlotogora, Yael Furman-Shaharabani, Sandra Goldenfum, Bryan Winchester, Kurt Von Figura and Volkmar Gieselmann

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520205

    5. Preimplantation genetics: A case for prospective action (pages 151–157)

      Eugene Pergament and Andrea Bonnicksen

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520206

    6. Molecular and clinical study of 61 Angelman syndrome patients (pages 158–163)

      Shinji Saitoh, Naoki Harada, Yoshihiro Jinno, Katsuyo Hashimoto, Kiyoshi Imaizumi, Yoshikazu Kuroki, Yohimitsu Fukushima, Tateo Sugimoto, Mónica Renedo, Joseph Wagstaff, Marc Lalande, Apiwat Mutirangura, Akira Kuwano, David H. Ledbetter and Norio Niikawa

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520207

    7. Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients (pages 164–169)

      Khalil Elbedour, Nili Zucker, Eli Zalzstein, Yechiel Barki and Dr. Rivka Carmi

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520208

    8. Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance (pages 170–173)

      M. Rita Passos-Bueno, Suely K. Marie, Mario Monteiro, Isaac Neustein, Martin R. Whittle, Mariz Vainzof and Mayana Zatz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520209

    9. Apparent genetic homogeneity of the treacher Collins-Franceschetti syndrome (pages 174–177)

      Patrick Edery, Yves Manach, Martine Le Merrer, Marianne Till, Alain Vignal, Stanislas Lyonnet and Arnold Munnich

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520210

    10. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype (pages 178–183)

      Reema Mewar, Wilbur Harrison, David D. Weaver, Catherine Palmer, Margaret A. Davee and Dr. Joan Overhauser

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520211

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Duplication 10q confirmed by DNA in situ hybridization (pages 184–187)

      Virginia P. Johnson and Willis C. Sutliff

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520212

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Diamniotic placentation associated with omphalopagus conjoined twins: Implications for a contemporary model of conjoined twinning (pages 188–195)

      Raj P. Kapur, Rhona M. Jack and Joseph R. Siebert

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520213

    2. Megalocornea-mental retardation syndrome: An additional case (pages 196–197)

      Guillermo Antiñolo, Miguel Rufo, Salud Borrego and Celia Morales

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520214

    3. Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation (pages 198–206)

      N. Abbadi, C. Philippe, M. Chery, H. Gilgenkrantz, F. Tome, H. Collin, D. Theau, D. Recan, O. Broux, M. Fardeau, J.-C. Kaplan and Pr. S. Gilgenkrantz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520215

    4. Linkage analyses of chromosome 6 loci, including HLA, in familial aggregations of Crohn disease (pages 207–213)

      Jean Pierre Hugot, Pierre Laurent-Puig, Corine Gower-Rousseau, Sophie Caillat-Zucman, Laurent Beaugerie, Jean-Louis Dupas, André Van Gossum, Catherine Bonaïti-Pellie, Antoine Cortot, Gilles Thomas and G.E.T.A.I.D.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520216

    5. Jumping translocation in a newborn boy with dup (4q) and severe hydrops fetalis (pages 214–217)

      Els Duval, Apollonia van den Enden, Piet Vanhaesebrouck and Frank Speleman

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520217

    6. Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins (pages 218–222)

      M. S. van der Knaap and P. G. Barth

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520218

    7. Monozygotic twins discordant for gastroschisis: Case report and review of the literature of twins and familial occurrence of gastroschisis (pages 223–226)

      Merete Bugge, Michael B. Petersen and M. Fjord Christensen

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520219

  5. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D (pages 227–230)

      Dr. Wim J. Kleijer, Frits A. Beemer and Bart W. Boom

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520220

  6. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Is fluphenazine a teratogen? (pages 231–232)

      Prof. Paul Merlob, Bracha Stahl and Esther Maltz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520221

    2. Wiedemann-Beckwith syndrome, imprinting, IGF2, and H19: Implications for hemihyperplasia, associated neoplasms, and overgrowth (pages 233–234)

      Dr. M. Michael Cohen Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520222

    3. Wiedemann-Beckwith syndrome: Genomic imprinting revisited (pages 235–236)

      Dr. Rosanna Weksberg

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520223

    4. Axial mesodermal dysplasia spectrum: Affected sisters with oculoauriculovertebral “dysplasia” and caudal “regression” sequence (pages 237–238)

      Dr. N. R. Dennis and J. D. Atwell

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520224

    5. Detection of 46,XX male by Y-specific whole chromosome paint probe (pages 239–241)

      Dr. Syed M. Jalal, Mark E. Law, Gordon W. Dewald, Gurbax S. Sekhon and Daniel L. Van Dyke

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520225

    6. Japanese kindred with FG syndrome (pages 242–243)

      Rumiko Kato, Norio Niikawa, Toshiro Nagai and Yoshimitsu Fukushima

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520226

    7. Double trisomy (48,XXX, + 18) (page 244)

      Dr. M. Tsukahara, M. Fukuda, S. Furukawa and O. Kondoh

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520227

    8. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly (page 245)

      Satoshi Ishikiriyama and Michiyo Goto

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520228

    9. Angelman syndrome and vermian cyst (pages 246–247)

      G. Incorpora, M. Cocuzza and T. Mattina

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520229

    10. X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V (pages 248–250)

      G. Annerén and A. Amilon

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520230

    11. Familial Pallister-Hall syndrome: Three affected offspring (page 251)

      Irene N. Sills, Robert Rapaport, Franklin Desposito and Caroline Lieber

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520231

    12. Hereditary hemorrhagic telangiectasia: A disorder in search of the genetics community (pages 252–253)

      Alan E. Guttmacher, Wendy C. McKinnon and Michael D. Upton

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520232

    13. NAS-NRC twin registry 1995 survey (page 254)

      William F. Page

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520233

  7. Book Received

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Books received (page 255)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520234

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