American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

July 2013

Volume 161, Issue 7

Pages C1–C1, fm i–fm vi, vii–x, 1523–1827

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Review
    9. Correspondence
    1. You have free access to this content
  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Review
    9. 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. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Review
    9. Correspondence
    1. You have free access to this content
    2. You have free access to this content
    3. You have free access to this content
      IN THIS ISSUE (page x)

      Version of Record online: 19 JUN 2013 | DOI: 10.1002/ajmg.a.36089

  4. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Review
    9. Correspondence
    1. You have full text access to this OnlineOpen article
      Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption (pages 1523–1530)

      Alex R. Paciorkowski, Kim Keppler-Noreuil, Luther Robinson, Christopher Sullivan, Samin Sajan, Susan L. Christian, Polina Bukshpun, Stacy B. Gabriel, Joseph G. Gleeson, Elliott H. Sherr and William B. Dobyns

      Version of Record online: 23 MAY 2013 | DOI: 10.1002/ajmg.a.35969

    2. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies (pages 1543–1546)

      Yukiko Kondo, Eriko Koshimizu, Andre Megarbane, Haruka Hamanoue, Ippei Okada, Kiyomi Nishiyama, Hirofumi Kodera, Satoko Miyatake, Yoshinori Tsurusaki, Mitsuko Nakashima, Hiroshi Doi, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto

      Version of Record online: 23 MAY 2013 | DOI: 10.1002/ajmg.a.35983

    3. Delineation of a region responsible for panhypopituitarism in 20p11.2 (pages 1547–1554)

      Manal Dayem-Quere, Fabienne Giuliano, Kathy Wagner-Mahler, Christophe Massol, Letizia Crouzet-Ozenda, Jean-Claude Lambert and Houda Karmous-Benailly

      Version of Record online: 8 MAY 2013 | DOI: 10.1002/ajmg.a.35921

    4. Mortality of congenital osteochondrodysplasias: A nationwide registry-based study (pages 1555–1560)

      Antonio Morales-Piga, Verónica Alonso-Ferreira, Ana Villaverde-Hueso, Manuel Posada de la Paz and Gonzalo López-Abente

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35929

    5. Descriptive epidemiology of idiopathic clubfoot (pages 1569–1578)

      Martha M. Werler, Mahsa M. Yazdy, Allen A. Mitchell, Robert E. Meyer, Charlotte M. Druschel, Marlene Anderka, James R. Kasser and Susan T. Mahan

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35955

    6. Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36 (pages 1579–1584)

      Mohammad M. Al-Qattan, Hanan E. Shamseldin, Mohammed Al Mazyad, Saud Al Deghaither and Fowzan S. Alkuraya

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35956

    7. Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging (pages 1585–1593)

      Kyle B. Jones, Alice F. Goodwin, Maya Landan, Kerstin Seidel, Dong-Kha Tran, Jacob Hogue, Miquella Chavez, Mary Fete, Wenli Yu, Tarek Hussein, Ramsey Johnson, Kenneth Huttner, Andrew H. Jheon and Ophir D. Klein

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35959

    8. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene (pages 1594–1598)

      Magali Avila, Maria Kirchhoff, Nathalie Marle, Hanna D. Hove, Mondher Chouchane, Christel Thauvin-Robinet, Alice Masurel, Anne-Laure Mosca-Boidron, Patrick Callier, Francine Mugneret, Susanne Kjaergaard and Laurence Faivre

      Version of Record online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.35970

    9. You have full text access to this OnlineOpen article
      LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset (pages 1599–1611)

      Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

      Version of Record online: 10 MAY 2013 | DOI: 10.1002/ajmg.a.35971

    10. “If it helps …” the use of microarray technology in prenatal testing: Patient and partners reflections (pages 1619–1627)

      Sarah C. Hillman, John Skelton, Elizabeth Quinlan-Jones, Amie Wilson and Mark D. Kilby

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35981

    11. The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients' perspective (pages 1628–1637)

      Klaartje van Engelen, Marieke J.H. Baars, Joyce P. Felix, Alex V. Postma, Barbara J.M. Mulder and Ellen M.A. Smets

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35973

    12. Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome (pages 1638–1646)

      Christopher A. Chapleau, Jane Lane, Susan M. Kirwin, Carolyn Schanen, Kathy M.B. Vinette, Danielle Stubbolo, Patrick MacLeod and Alan K. Percy

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35979

    13. Growth hormone receptor (GHR) gene polymorphism and prader–willi syndrome (pages 1647–1653)

      Merlin G. Butler, Jennifer Roberts, Jena Hayes, Xiaoyu Tan and Ann M. Manzardo

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35980

    14. The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case–control study (pages 1654–1661)

      Dr. Linlea Armstrong, Kimberly Jett, Patricia Birch, David L. Kendler, Heather McKay, Erica Tsang, David A. Stevenson, David A. Hanley, Deetria Egeli, Melonie Burrows and J.M. Friedman

      Version of Record online: 24 MAY 2013 | DOI: 10.1002/ajmg.a.36001

    15. Cardiac fat-containing lesions are common in tuberous sclerosis complex (pages 1662–1665)

      Elias A. Shaaya, Jacqueline S. Hirshberg, Olivia T. Rabe, Ronald L. Thibert, Ignacio Inglessis, Amita Sharma and Elizabeth A. Thiele

      Version of Record online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.36037

    16. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome (pages 1666–1674)

      Andrea Van Lierde, Francesca Menni, Maria Francesca Bedeschi, Federica Natacci, Sophie Guez, Paola Vizziello, Maria Antonella Costantino, Faustina Lalatta and Susanna Esposito

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35982

  5. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Review
    9. Correspondence
    1. Familial trisomy 6p in mother and daughter (pages 1675–1681)

      Marco Savarese, Anna Grandone, Lucia Perone, Francesca Del Vecchio Blanco, Giuseppina De Luca, Giuseppina Di Fruscio, Giuseppina Fogu, Giulio Piluso, Laura Perrone, Emanuele Miraglia del Giudice and Vincenzo Nigro

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35928

    2. 6p25 microdeletion: White matter abnormalities in an adult patient (pages 1686–1689)

      Hilary J. Vernon, Aida Bytyci Telegrafi, Denise Batista, Margaret Owegi and Richard Leigh

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35937

    3. A novel RASA1 mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy (pages 1690–1694)

      Hannah J. Durrington, Helen V. Firth, Charlotte Patient, Mark Belham, David Jayne, Nigel Burrows, Nicholas W. Morrell and Edwin R. Chilvers

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35935

    4. Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype (pages 1695–1701)

      Jia-Chi Wang, Mary Vaccarello-Cruz, Leslie Ross, Renius Owen, Victoria M. Pratt, Katherine Lightman, Yan Liu, Katayoun Hafezi, Dhia Cherif and Dr. Trilochan Sahoo

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35939

    5. De novo trisomy 12p in twin girls with different levels of mosaicism (pages 1702–1705)

      Eileen C.P. Lim, Ivy S.L. Ng, Min-Hwee Yong, Hui-Yi Yon, Maggie S.Y. Brett and Ene-Choo Tan

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35943

    6. Progressive extreme heterotopic calcification (pages 1706–1713)

      Margherita Silengo, Claudio Defilippi, Elga Belligni, Elisa Biamino, Elisabetta Flex, Alfredo Brusco, Giovanni Battista Ferrero, Marco Tartaglia and Raoul C. Hennekam

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35944

    7. XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome (pages 1714–1717)

      Komudi Siriwardena, Almundher Al-Maawali, Andrea Guerin, Susan Blaser and David Chitayat

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35945

    8. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy (pages 1722–1725)

      Alexander G. Bassuk, Eileen Geraghty, Shu Wu, Saul A. Mullen, Samuel F. Berkovic, Ingrid E. Scheffer and Heather C. Mefford

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35946

    9. Severe obstructive sleep apnea in loeys–dietz syndrome successfully treated using continuous positive airway pressure (pages 1733–1736)

      Toshiki Takenouchi, Hideyuki Saito, Ryo Maruoka, Naoki Oishi, Chiharu Torii, Jun Maeda, Takao Takahashi and Kenjiro Kosaki

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35953

    10. Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype (pages 1737–1742)

      Rasim O. Rosti, Kadri Karaer, Birsen Karaman, Deniz Torun, Sefik Guran and Muhterem Bahce

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35954

    11. Renal-hepatic-pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies and NPHP3 mutation (pages 1743–1749)

      Lawrence Copelovitch, Maureen M. O'Brien, Marta Guttenberg, Edgar A. Otto and Bernard S. Kaplan

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35958

    12. Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly (pages 1750–1754)

      Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Elisa Guareschi, Caterina Longo, Giuseppe Albertini, Chiara Gelmini, Chiara Greco, Stefania Errico, Gustavo Savino, Marco Pavanello, Rudolf Happle, Sheila Unger, Andrea Superti-Furga and Karl-Heinz Grzeschik

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35964

    13. Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects (pages 1755–1758)

      Elisabeth A. Keitges, Romela Pasion, Rachel D. Burnside, Carla Mason, Antonio Gonzalez-Ruiz, Teresa Dunn, Meredith Masiello, Joseph A. Gebbia, Carlos O. Fernandez and Hiba Risheg

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35965

    14. Two cases of hepatic adenomas in patients with wolf-hirschhorn syndrome: A new rare complication? (pages 1759–1762)

      Giulia Prunotto, Paola Cianci, Anna Cereda, Agnese Scatigno, Chiara Fossati, Silvia Maitz, Andrea Biondi and Angelo Selicorni

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35966

    15. Two is better than one: A case of homozygous myotonic dystrophy type 1 (pages 1763–1767)

      Jillian M. Carroll, Kimberly A. Quaid, Kristyne Stone, Renee Jones, Frank Schubert and Christopher B. Griffith

      Version of Record online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.35967

    16. Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis (pages 1768–1772)

      Daniela Alves, Mafalda Sampaio, Rita Figueiredo and Miguel Leão

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35968

    17. First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities (pages 1773–1778)

      Peter H. Bui, Naghmeh Dorrani, Derek Wong, Gregory Perens, Katrina M. Dipple and Fabiola Quintero-Rivera

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35974

    18. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients (pages 1779–1785)

      Shino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, Keisuke Yoshii, Yumi Tani, Midori Sugawara, Keiko Shimojima, Makiko Osawa and Toshiyuki Yamamoto

      Version of Record online: 23 MAY 2013 | DOI: 10.1002/ajmg.a.35975

  6. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Review
    9. Correspondence
    1. Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type (pages 1786–1791)

      Flore Zufferey, Smaïl Hadj-Rabia, Annachiara De Sandre-Giovannoli, Jean-Louis Dufier, Bruno Leheup, Cyril Schweitze, Christine Bodemer, Valérie Cormier-Daire and Martine Le Merrer

      Version of Record online: 29 MAY 2013 | DOI: 10.1002/ajmg.a.35984

    2. Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene (pages 1792–1796)

      Sharon Moalem, Sarah Keating, Patrick Shannon, Megan Thompson, Kathryn Millar, Keith Nykamp, Adam Forster, Abdul Noor and David Chitayat

      Version of Record online: 24 MAY 2013 | DOI: 10.1002/ajmg.a.36036

    3. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes (pages 1797–1802)

      Caroline Alby, Bettina Bessieres, Eric Bieth, Tania Attie-Bitach, Laurent Fermont, Isabelle Citony, Ferechté Razavi, Michel Vekemans, Fabienne Escande, Sylvie Manouvrier, Valérie Malan and Jeanne Amiel

      Version of Record online: 24 MAY 2013 | DOI: 10.1002/ajmg.a.36054

    4. Daytime somnolence in an adult with smith–magenis syndrome (pages 1803–1805)

      Toshiki Takenouchi, Hideyuki Saito, Naoki Oishi, Hiroyuki Fukushima, Rika Kosaki, Chiharu Torii, Takao Takahashi and Kosaki Kenjiro

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35936

    5. Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability (pages 1806–1812)

      Kristina Orendi, Sabine Uhrig, Monika Mach, Petra Tschepper and Michael R. Speicher

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35986

    6. Expanding the phenotype associated with missense mutations of the ARX gene (pages 1813–1816)

      Agnieszka Charzewska, Magdalena Nawara, Anna Jakubiuk-Tomaszuk, Ewa Obersztyn, Dorota Hoffman-Zacharska, Ewelina Elert, Marta Jurek, Magdalena Bartnik, Jarosław Poznański and Jerzy Bal

      Version of Record online: 8 MAY 2013 | DOI: 10.1002/ajmg.a.36003

  7. Research Review

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Review
    9. Correspondence
    1. Chimerism in monochorionic dizygotic twins: Case study and review (pages 1817–1824)

      Kristen Chen, Ramen H. Chmait, Douglas Vanderbilt, Samuel Wu and Linda Randolph

      Version of Record online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.35957

  8. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Research Review
    9. Correspondence
    1. Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures (pages 1825–1826)

      Milena Mariani, Laura R. Bettini, Anna Cereda, Silvia Maitz, Cristina Gervasini, Silvia Russo, Maura Masciadri, Andrea Biondi, Lidia Larizza and Angelo Selicorni

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35988

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