American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

January 2010

Volume 152A, Issue 1

Pages C1–C1, fm i–fm ix, 1–268

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
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  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. You have free access to this content
  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
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    2. You have free access to this content
      ACLU case against Myriad Genetics (page fm viii)

      Deborah Levenson

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33280

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    4. You have free access to this content
    5. You have free access to this content
      In this issue (page fm ix)

      Deborah Levenson

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33283

  4. Genetic Drift

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. You have free access to this content
      Word smithing in medical genetics (pages 1–3)

      M. Michael Cohen Jr.

      Article first published online: 8 DEC 2009 | DOI: 10.1002/ajmg.a.32908

  5. Conference Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. You have free access to this content
      Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back (pages 4–24)

      Katherine A. Rauen, Lisa Schoyer, Frank McCormick, Angela E. Lin, Judith E. Allanson, David A. Stevenson, Karen W. Gripp, Giovanni Neri, John C. Carey, Eric Legius, Marco Tartaglia, Suzanne Schubbert, Amy E. Roberts, Bruce D. Gelb, Kevin Shannon, David H. Gutmann, Martin McMahon, Carmen Guerra, James A. Fagin, Benjamin Yu, Yoko Aoki, Benjamin G. Neel, Allan Balmain, Richard R. Drake, Garry P. Nolan, Martin Zenker, Gideon Bollag, Judith Sebolt-Leopold, Jackson B. Gibbs, Alcino J. Silva, E. Elizabeth Patton, David H. Viskochil, Mark W. Kieran, Bruce R. Korf, Randi J. Hagerman, Roger J. Packer and Teri Melese

      Article first published online: 11 DEC 2009 | DOI: 10.1002/ajmg.a.33183

  6. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. You have free access to this content
      Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: A novel epidermal nevus syndrome (pages 25–31)

      Marco Castori, Giorgio Annessi, Daniele Castiglia, Vitaliano Buffa, Andrea Paradisi, Piero Cascone, Giovanna Zambruno, Paola Grammatico and Mauro Paradisi

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33175

  7. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Speech characteristics in neurofibromatosis type 1 (pages 42–51)

      Lotta Alivuotila, Jussi Hakokari, Vivian Visnapuu, Anna-Maija Korpijaakko-Huuhka, Olli Aaltonen, Risto-Pekka Happonen, Sirkku Peltonen and Juha Peltonen

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33178

    2. Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population (pages 67–74)

      Colleen A. Campbell, Charley C. Della Santina, Nicole C. Meyer, Nancy B. Smith, Oluwaseun A. Myrie, Edwin M. Stone, Kuni Fukushima, Joseph Califano, John P. Carey, Marlan R. Hansen, Bruce J. Gantz, Lloyd B. Minor and Richard J.H. Smith

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33114

    3. Hypospadias in males with intrauterine growth restriction due to placental insufficiency: The placental role in the embryogenesis of male external genitalia (pages 75–83)

      Yoav Yinon, John C.P. Kingdom, Leslie K. Proctor, Edmond N. Kelly, Joao L. Pippi Salle, Diane Wherrett, Sarah Keating, Ori Nevo and David Chitayat

      Article first published online: 11 DEC 2009 | DOI: 10.1002/ajmg.a.33140

    4. Living with Costello syndrome: Quality of life issues in older individuals (pages 84–90)

      Elizabeth Hopkins, Angela E. Lin, Katherine E. Krepkovich, Marni E. Axelrad, Katia Sol-Church, Deborah L. Stabley, Jobayer Hossain and Karen W. Gripp

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33147

    5. Diagnostic utility of daytime salivary melatonin levels in Smith–Magenis syndrome (pages 96–101)

      Constance L. Chik, Mark D. Rollag, Wallace C. Duncan and Ann C.M. Smith

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33158

    6. Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia (pages 102–110)

      Carla S. D'Angelo, Ilana Kohl, Monica Castro Varela, Cláudia I.E. de Castro, Chong A. Kim, Débora R. Bertola, Charles M. Lourenço and Célia P. Koiffmann

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33160

    7. Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome (pages 111–117)

      Laila Rifai, Marylin Port-Lis, Anne-Claude Tabet, Isabelle Bailleul-Forestier, Brigitte Benzacken, Séverine Drunat, Suzanne Kuzbari, Sandrine Passemard, Alain Verloes and Azzedine Aboura

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33164

    8. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy (pages 118–123)

      G. Le Boulanger, C. Labrèze, A. Croué, L.J. Schurgers, N. Chassaing, T. Wittkampf, F. Rutsch and L. Martin

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33162

    9. Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: Identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray (pages 133–140)

      Satoshi Narumi, Chikahiko Numakura, Takashi Shiihara, Chizuru Seiwa, Yasuyuki Nozaki, Takanori Yamagata, Mariko Y. Momoi, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Eriko Nishi, Hiroshi Kawame, Tsutomu Akahane, Gen Nishimura, Mitsuru Emi and Tomonobu Hasegawa

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33177

    10. A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree (pages 141–146)

      L. Abaied, M. Trabelsi, M. Chaabouni, M. Kharrat, L. Kraoua, R. M'rad, N. Tebib, F. Maazoul and H. Chaabouni

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33179

  8. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Fowler syndrome—A clinical, radiological, and pathological study of 14 cases (pages 153–160)

      Denise Williams, Chirag Patel, Catherine Fallet-Bianco, Karthik Kalyanasundaram, Mohamed Yacoubi, Pierre Déchelotte, Rosemary Scott, Anne Bazin, Bettina Bessières, Tamas Marton and Phillip Cox

      Article first published online: 11 DEC 2009 | DOI: 10.1002/ajmg.a.33094

    2. Floating-Harbor syndrome associated with middle ear abnormalities (pages 161–164)

      Jan-Jaap Hendrickx, Kathelijn Keymolen, Brigitte Desprechins, Jan Casselman and Frans Gordts

      Article first published online: 11 DEC 2009 | DOI: 10.1002/ajmg.a.33033

    3. Novel cardiac findings in periventricular nodular heterotopia (pages 165–168)

      John L. Jefferies, Michael D. Taylor, Joseph Rossano, John W. Belmont and William J. Craigen

      Article first published online: 11 DEC 2009 | DOI: 10.1002/ajmg.a.33110

    4. Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2 (pages 169–174)

      Areeg H. El-Gharbawy, Joseph N. Peeden Jr., Ralph S. Lachman, John M. Graham Jr., Stephen R. Moore and David L. Rimoin

      Article first published online: 11 DEC 2009 | DOI: 10.1002/ajmg.a.33146

    5. Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia (pages 175–180)

      Bertrand Isidor, Olivier Pichon, Sabine Baron, Albert David and Cédric Le Caignec

      Article first published online: 11 DEC 2009 | DOI: 10.1002/ajmg.a.33152

    6. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome (pages 181–184)

      Oliver Bartsch, Janette Labonté, Beate Albrecht, Dagmar Wieczorek, Stanislav Lechno, Ulrich Zechner and Thomas Haaf

      Article first published online: 14 DEC 2009 | DOI: 10.1002/ajmg.a.33153

    7. Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly (pages 191–195)

      Harvinder S. Dod, Ravindra Bhardwaj, Marybeth Hummel, Anthony P. Morise, Satdev Batish, Bradford E. Warden, Robert J. Beto and Abnash C. Jain

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33155

    8. A de novo 8.8-Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21 (pages 196–202)

      Chad R. Haldeman-Englert, Kimberly A. Chapman, Hillary Kruger, Elizabeth A. Geiger, Donna M. McDonald-McGinn, Eric Rappaport, Elaine H. Zackai, Nancy B. Spinner and Tamim H. Shaikh

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33176

  9. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Wolf–Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature (pages 203–208)

      Alan L. Shanske, Naomi Yachelevich, Leena Ala-Kokko, Jay Leonard and Brynn Levy

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33159

    2. Risk of breast cancer not increased in translocation 11;22 carriers: Analysis of 80 pedigrees (pages 212–214)

      Melissa T. Carter, Nicholas J. Barrowman, Stephanie A. St.Pierre, Beverly S. Emanuel and Kym M. Boycott

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33166

    3. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome (pages 215–217)

      Noriko Miyake, Caroline Andrews, Wen Fan, Wei He, Wai-Man Chan and Elizabeth C. Engle

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33168

    4. An unusual phenotypic presentation of trisomy 18 (pages 218–221)

      Sonal Patel, Malektaj Yazdani, Brian Barkemeyer and Yves Lacassie

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33173

    5. Further evidence for EpCAM as the gene for congenital tufting enteropathy (pages 222–224)

      Mamata Sivagnanam, Tiffany Schaible, Reka Szigeti, Robert H. Byrd, Milton J. Finegold, Sarangarajan Ranganathan, G.S. Gopalakrishna, Nina Tatevian and Richard Kellermayer

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33186

    6. GAPO syndrome associated with craniofacial vascular malformation (pages 225–227)

      Gregor Castrillon-Oberndorfer, Robin Seeberger, Claire Bacon, Michael Engel, Friedrich Ebinger and Oliver Christian Thiele

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33192

    7. Variegated aneuploidy and ring chromosome syndromes overlap (pages 228–229)

      Horacio Rivera and María G. Domínguez

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33195

    8. An 18-year follow-up report on an infant with a duplication of 9q34 (pages 230–233)

      Erin L. Youngs, Timothy McCord, Jessica A. Hellings, Nancy B. Spinner, Adele Schneider and Merlin G. Butler

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33196

    9. Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH (pages 234–236)

      Anna Lisa Nucaro, Melania Falchi, Tiziana Pisano, Rossano Rossino, Francesca Boscarelli, Giusi Stoico, Angela Milia, Caterina Montaldo, Carlo Cianchetti and Dario Pruna

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33167

  10. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Phenotypic map in ring 14 syndrome (page 237)

      Marcella Zollino, Daniela Orteschi and Giovanni Neri

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33169

  11. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia (pages 245–255)

      María Luisa Martínez-Frías, Cristina A. de Frutos, Eva Bermejo, ECEMC Working Group and M. Angela Nieto

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33188

  12. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Book review (pages 256–257)

      Neil F. Sharpe

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33171

  13. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Genetic Drift
    6. Conference Reports
    7. New Syndrome
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Mild Wolf–Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures (pages 258–261)

      Cinzia Galasso, Adriana Lo-Castro, Nadia El-Malhany, Marcella Zollino, Marina Murdolo, Daniela Orteschi, Maria Luisa Manca Bitti and Paolo Curatolo

      Article first published online: 11 DEC 2009 | DOI: 10.1002/ajmg.a.32931

    2. Holoprosencephaly-diencephalic hamartoma: Sequence or pleiotropy? (pages 267–268)

      Fabien Guimiot, Pascale Marcorelles, Anne-lise Delezoide and Annie Laquerrière

      Article first published online: 23 DEC 2009 | DOI: 10.1002/ajmg.a.33190

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