American Journal of Medical Genetics Part A

Cover image for Vol. 167 Issue 9

Early View (Online Version of Record published before inclusion in an issue)

Edited By: John C. Carey

Impact Factor: 2.159

ISI Journal Citation Reports © Ranking: 2014: 104/167 (Genetics & Heredity)

Online ISSN: 1552-4833

Associated Title(s): American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

VIEW

  1. 1 - 100
  2. 101 - 131
  1. Clinical Reports

    1. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2–q13.31 microdeletion

      Ines Quintela, Lorena Gomez-Guerrero, Montse Fernandez-Prieto, Mariela Resches, Francisco Barros and Angel Carracedo

      Article first published online: 29 AUG 2015 | DOI: 10.1002/ajmg.a.37292

  2. Research Articles

    1. Thyroid nodules on chest CT of patients with tuberous sclerosis complex

      Maria Auladell, Susana Boronat, Ignasi Barber and Elizabeth A. Thiele

      Article first published online: 29 AUG 2015 | DOI: 10.1002/ajmg.a.37339

    2. Autism spectrum disorder in Prader–Willi syndrome: A systematic review

      Jeffrey A. Bennett, Tamara Germani, Andrea M. Haqq and Lonnie Zwaigenbaum

      Article first published online: 29 AUG 2015 | DOI: 10.1002/ajmg.a.37286

    3. You have full text access to this OnlineOpen article
      Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18

      Ken Imai, Atsushi Uchiyama, Tomoka Okamura, Mako Ago, Hideyo Suenaga, Eri Sugita, Hideko Ono, Kyoko Shuri, Kenichi Masumoto, Satsuki Totsu, Hidehiko Nakanishi and Satoshi Kusuda

      Article first published online: 26 AUG 2015 | DOI: 10.1002/ajmg.a.37246

  3. Erratum

    1. You have free access to this content
      Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE

      Julie Richer, Hussein Daoud, Pavel Geier, Olga Jarinova, Nancy Carson, Jana Feberova, Nadya Ben Fadel, Jennifer Unrau, Eric Bareke, Karine Khatchadourian, Dennis E. Bulman, Jacek Majewski, Kym M. Boycott and David A. Dyment

      Article first published online: 26 AUG 2015 | DOI: 10.1002/ajmg.a.37270

      This article corrects:

      Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE

      Vol. 167, Issue 7, 1654–1658, Article first published online: 21 APR 2015

  4. Clinical Reports

  5. Research Articles

    1. Chronic pain in Noonan syndrome: A previously unreported but common symptom

      Sravanthi Vegunta, Richard Cotugno, Amber Williamson and Theresa A. Grebe

      Article first published online: 22 AUG 2015 | DOI: 10.1002/ajmg.a.37337

  6. Clinical Reports

    1. Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy

      Dylan A. Mordaunt, Liam C. McIntyre, Hayley Salvemini, Afdal Ibrahim, Drago Bratkovic, David Ketteridge, Hamish S. Scott, Karin S. Kassahn and Nicholas Smith

      Article first published online: 20 AUG 2015 | DOI: 10.1002/ajmg.a.37161

  7. Research Articles

    1. Clinical and genetic characteristics of craniosynostosis in Hungary

      Beáta Bessenyei, Andrea Nagy, Katalin Szakszon, Attila Mokánszki, Erzsébet Balogh, Anikó Ujfalusi, Mariann Tihanyi, László Novák, László Bognár and Éva Oláh

      Article first published online: 20 AUG 2015 | DOI: 10.1002/ajmg.a.37298

  8. Rapid Communications

    1. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

      Nuria Garcia Segarra, Diana Ballhausen, Heather Crawford, Matthieu Perreau, Belinda Campos-Xavier, Karin van Spaendonck-Zwarts, Cees Vermeer, Michel Russo, Pierre-Yves Zambelli, Brian Stevenson, Beryl Royer-Bertrand, Carlo Rivolta, Fabio Candotti, Sheila Unger, Francis L. Munier, Andrea Superti-Furga and Luisa Bonafé

      Article first published online: 19 AUG 2015 | DOI: 10.1002/ajmg.a.37338

  9. Clinical Reports

    1. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11

      Hideaki Yagasaki, Takaya Nakane, Youhei Hasebe, Atsushi Watanabe, Hiroaki Kise, Takako Toda, Keiichi Koizumi, Minako Hoshiai and Kanji Sugita

      Article first published online: 19 AUG 2015 | DOI: 10.1002/ajmg.a.37295

  10. Research Articles

  11. Clinical Reports

    1. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

      Ines Quintela, Francisco Barros, Montse Fernandez-Prieto, Rocio Martinez-Regueiro, Manuel Castro-Gago, Angel Carracedo, Carmen Gomez-Lado and Jesus Eiris

      Article first published online: 18 AUG 2015 | DOI: 10.1002/ajmg.a.37291

  12. Research Articles

    1. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

      Mona Aglan, Khalda Amr, Samira Ismail, Adel Ashour, Ghada A. Otaify, Mennat Allah I. Mehrez, Eman H. A. Aboul-Ezz, Mona El-Ruby, Inas Mazen, Mohamed S. Abdel-Hamid and Samia A. Temtamy

      Article first published online: 18 AUG 2015 | DOI: 10.1002/ajmg.a.37287

  13. Invited Comments

  14. Research Articles

    1. Exome analysis of a family with Wolff–Parkinson–White syndrome identifies a novel disease locus

      Neil E. Bowles, Chuanchau J. Jou, Cammon B. Arrington, Brett J. Kennedy, Aubree Earl, Norisada Matsunami, Lindsay L. Meyers, Susan P. Etheridge, Elizabeth V. Saarel, Steven B. Bleyl, H. Joseph Yost, Mark Yandell, Mark F. Leppert, Martin Tristani-Firouzi, Peter J. Gruber and the Baylor Hopkins Centers for Mendelian Genomics

      Article first published online: 18 AUG 2015 | DOI: 10.1002/ajmg.a.37297

  15. Clinical Reports

    1. Atypical Williams syndrome in an infant with complete atrioventricular canal defect

      Rebecca C. Ahrens-Nicklas, Sara L. Reichert, Elaine H. Zackai and Paige B. Kaplan

      Article first published online: 14 AUG 2015 | DOI: 10.1002/ajmg.a.37288

  16. Research Articles

    1. Marfan syndrome patient experiences as ascertained through postings on social media sites

      Erin Kelleher, Philip F. Giampietro and Megan A. Moreno

      Article first published online: 14 AUG 2015 | DOI: 10.1002/ajmg.a.37255

    2. A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia

      Lauren Hurd, Susan M. Kirwin, Mary Boggs, William G. Mackenzie, Michael B. Bober, Vicky L. Funanage and Randall L. Duncan

      Article first published online: 6 AUG 2015 | DOI: 10.1002/ajmg.a.37182

    3. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature

      Yonit A. Addissie, Udhaya Kotecha, Rachel A. Hart, Ariel F. Martinez, Paul Kruszka and Maximilian Muenke

      Article first published online: 6 AUG 2015 | DOI: 10.1002/ajmg.a.37259

  17. Clinical Reports

  18. Invited Comments

    1. National down syndrome patient database: Insights from the development of a multi-center registry study

      Jenifer Lavigne, Christianne Sharr, Al Ozonoff, Lisa Albers Prock, Nicole Baumer, Campbell Brasington, Sheila Cannon, Blythe Crissman, Emily Davidson, Jose C. Florez, Priya Kishnani, Angela Lombardo, Jordan Lyerly, Jessica B. McCannon, Mary Ellen McDonough, Alison Schwartz, Kathryn L. Berrier, Susan Sparks, Kara Stock-Guild, Tomi L. Toler, Kishore Vellody, Lauren Voelz and Brian G. Skotko

      Article first published online: 6 AUG 2015 | DOI: 10.1002/ajmg.a.37267

  19. Research Articles

    1. Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A

      Elizabeth A. Duffy, Pamela R. Pretorius, Stephanie Lerach, Jamie L. Lohr, Betsy Hirsch, Cleiton M. Souza, André Veillette and Lisa A. Schimmenti

      Article first published online: 6 AUG 2015 | DOI: 10.1002/ajmg.a.37279

  20. Clinical Reports

    1. SOX2 anophthalmia syndrome and dental anomalies

      Oscar Francisco Chacon-Camacho, Bertha Irene Fuerte-Flores, Edgar F. Ricardez-Marcial and Juan Carlos Zenteno

      Article first published online: 6 AUG 2015 | DOI: 10.1002/ajmg.a.37277

    2. A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly

      Jaime Imitola, Divya S. Khurana, Nadiya M. Teplyuk, Mark Zucker, Reena Jethva, Agustin Legido, Ana M. Krichevsky, Michael Frangieh, Christopher A. Walsh and Karen S. Carvalho

      Article first published online: 4 AUG 2015 | DOI: 10.1002/ajmg.a.37268

    3. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome

      Ender Karaca, Ozge O. Yuregir, Sevcan T. Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N. Jhangiani, Zeynep C. Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M. Atik, Serkan Erdin, Donna Muzny, Richard A. Gibbs, James R. Lupski and The Baylor-Hopkins Center for Mendelian Genomics

      Article first published online: 4 AUG 2015 | DOI: 10.1002/ajmg.a.37263

    4. Progressive hip joint subluxation in Saul-Wilson syndrome

      Yasutsugu Chinen, Takuya Kaneshi, Takeshi Kamiya, Kenichiro Hata, Gen Nishimura and Tadashi Kaname

      Article first published online: 4 AUG 2015 | DOI: 10.1002/ajmg.a.37278

  21. Research Letters

    1. Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm

      José Vicente Arcos-Machancoses, Purificacion Marin Reina, Francisco Martinez, Maria Jimenez Busselo and Antonio Perez-Aytes

      Article first published online: 4 AUG 2015 | DOI: 10.1002/ajmg.a.37265

  22. Clinical Reports

    1. Menkes disease with discordant phenotype in female monozygotic twins

      Anna Lena Burgemeister, Birgit Zirn, Frank Oeffner, Stephen G. Kaler, Gunther Lemm, Eva Rossier and Hans-Martin Büttel

      Article first published online: 4 AUG 2015 | DOI: 10.1002/ajmg.a.37276

    2. New insights into central nervous system involvement in FOP: Case report and review of the literature

      Marta Bertamino, Mariasavina Severino, Maria Cristina Schiaffino, Maria Luisa Garrè, Renata Bocciardi, Roberto Ravazzolo, Andrea Rossi and Maja Di Rocco

      Article first published online: 4 AUG 2015 | DOI: 10.1002/ajmg.a.37271

  23. Erratum

    1. You have free access to this content
      Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

      Shubha R. Phadke

      Article first published online: 3 AUG 2015 | DOI: 10.1002/ajmg.a.37272

      This article corrects:

      Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

      Vol. 164, Issue 6, 1482–1489, Article first published online: 25 MAR 2014

  24. Research Letters

    1. Elucidating discrepant results in a prenatal diagnosis of 48,XXY,+18 (Edwards and Klinefelter syndromes)

      Jess F. Peterson, Kendra Mikulec, John W. Grignon Jr., Behnaz Behmaram, Meredith O. Cruz and Peter vanTuinen

      Article first published online: 31 JUL 2015 | DOI: 10.1002/ajmg.a.37250

  25. Clinical Reports

  26. Research Articles

    1. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

      Kacie N. Riley, Lisa M. Catalano, John A. Bernat, Stacie D. Adams, Donna M. Martin, Seema R. Lalani, Ankita Patel, Rachel D. Burnside, Jeffrey W. Innis and M. Katharine Rudd

      Article first published online: 31 JUL 2015 | DOI: 10.1002/ajmg.a.37269

  27. Clinical Reports

    1. Response to long-term growth hormone therapy in patients affected by RAsopathies and growth hormone deficiency: Patterns of growth, puberty and final height data

      Federica Tamburrino, Dino Gibertoni, Cesare Rossi, Emanuela Scarano, Annamaria Perri, Francesca Montanari, Maria Pia Fantini, Andrea Pession, Marco Tartaglia and Laura Mazzanti

      Article first published online: 31 JUL 2015 | DOI: 10.1002/ajmg.a.37260

    2. Mosaic paternal genome-wide uniparental isodisomy with Down syndrome

      Diana Darcy, Paldeep Singh Atwal, Cathy Angell, Inder Gadi and Robert Wallerstein

      Article first published online: 29 JUL 2015 | DOI: 10.1002/ajmg.a.37187

  28. Invited Comment

    1. Comment: The midline

      John M. Opitz

      Article first published online: 29 JUL 2015 | DOI: 10.1002/ajmg.a.37245

  29. Research Articles

    1. The neurobehavioral and molecular phenotype of Angelman syndrome

      Logan K. Wink, Sarah Fitzpatrick, Rebecca Shaffer, Sophia Melnyk, Amber H. Begtrup, Emma Fox, Tori L. Schaefer, Lauren Mathieu-Frasier, Balmiki Ray, Debomoy Lahiri, Paul A. Horn and Craig A. Erickson

      Article first published online: 29 JUL 2015 | DOI: 10.1002/ajmg.a.37254

    2. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry

      Andrea do Rego Borges, Jamile Sá, Ryuichi Hoshi, Camila Sane Viena, Lorena C. Mariano, Patricia de Castro Veiga, Alena Peixoto Medrado, Renato Assis Machado, Sibele Nascimento de Aquino, Ana Camila Messetti, Richard A. Spritz, Ricardo D. Coletta and Silvia R. A. Reis

      Article first published online: 22 JUL 2015 | DOI: 10.1002/ajmg.a.37181

  30. Clinical Reports

    1. Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant

      Tamar Harel, Jennifer E. Posey, Brett H. Graham, Magdalena Walkiewicz, Yaping Yang, Seema R. Lalani and John W. Belmont

      Article first published online: 21 JUL 2015 | DOI: 10.1002/ajmg.a.37230

    2. Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies

      Minjie Luo, Surabhi Mulchandani, Holly A. Dubbs, Daniel Swarr, Louise Pyle, Elaine H. Zackai, Nancy B. Spinner and Laura K. Conlin

      Article first published online: 21 JUL 2015 | DOI: 10.1002/ajmg.a.37261

  31. Research Articles

    1. Experiences with obtaining informed consent for genomic sequencing

      Barbara A. Bernhardt, Myra I. Roche, Denise L. Perry, Sarah R. Scollon, Ashley N. Tomlinson and Debra Skinner

      Article first published online: 21 JUL 2015 | DOI: 10.1002/ajmg.a.37256

  32. Research Reviews

  33. New Syndromes

    1. Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3–p25.3

      Ariana Kariminejad, Shahriar Nafissi, Yalda Nilipoor, Alireza Tavasoli, Paul P. Van Veldhoven, Carine Bonnard, Yeng Ting Ng, Charles B. Majoie, Bruno Reversade and Raoul C. Hennekam

      Article first published online: 20 JUL 2015 | DOI: 10.1002/ajmg.a.37248

  34. Correspondences

  35. Research Articles

    1. Behavioral characteristics associated with 19p13.2 microdeletions

      Alice Welham, Bursharan Barth, Joanna Moss, Jessica Penhallow, Krupa Sheth, Lucy Wilde, Sarah Wynn and Chris Oliver

      Article first published online: 16 JUL 2015 | DOI: 10.1002/ajmg.a.37180

  36. Research Letters

    1. Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14

      Nobuhiro Suzumori, Masayo Kagami, Kyoko Kumagai, Shinobu Goto, Keiko Matsubara, Shinichiro Sano and Mayumi Sugiura-Ogasawara

      Article first published online: 16 JUL 2015 | DOI: 10.1002/ajmg.a.37194

  37. Research Articles

    1. Targeted leukodystrophy diagnosis based on charges and yields for testing

      Jackson Richards, E. Kent Korgenski, Ryan J. Taft, Adeline Vanderver and Joshua L. Bonkowsky

      Article first published online: 16 JUL 2015 | DOI: 10.1002/ajmg.a.37215

  38. Clinical Reports

    1. Genochondromatosis type I: A clinicoradiological study of four family members

      Atul Sareen, Maria M. D'souza, Kanakeya Bachha Reddy, Rajesh Kumar Kanojia and Ajay Kumar

      Article first published online: 14 JUL 2015 | DOI: 10.1002/ajmg.a.37247

    2. Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome

      Sanjin Tunovic, Kristin W. Barañano, James A. Barkovich, Jonathan B. Strober, Leila Jamal and Anne M. Slavotinek

      Article first published online: 14 JUL 2015 | DOI: 10.1002/ajmg.a.37249

  39. Research Articles

  40. Clinical Reports

    1. Volvulus and bowel obstruction in ATR-X syndrome—Clinical report and review of literature

      Nir Horesh, Ron Pery, Imri Amiel, Chaya Shwaartz, Chen Speter, Larisa Guranda, Mordechai Gutman and Aviad Hoffman

      Article first published online: 14 JUL 2015 | DOI: 10.1002/ajmg.a.37252

    2. Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex

      Patrick Li, Susana Boronat, Alexandra Lauryn Geffrey, Ignasi Barber, Brian Edward Grottkau and Elizabeth Anne Thiele

      Article first published online: 14 JUL 2015 | DOI: 10.1002/ajmg.a.37235

  41. Research Articles

    1. Pseudoachondroplasia and painful sequelae

      Candace Gamble, Joanne Nguyen, S. Shahrukh Hashmi and Jacqueline T. Hecht

      Article first published online: 14 JUL 2015 | DOI: 10.1002/ajmg.a.37253

  42. In Memoriam

  43. Research Letters

    1. Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype

      Shagun Aggarwal, S. Jamal Mohamed Nurul Jain, Aneek Das Bhowmik, Ashwani Tandon and Ashwin Dalal

      Article first published online: 14 JUL 2015 | DOI: 10.1002/ajmg.a.37251

  44. Research Articles

    1. Is VACTERL a laterality defect?

      Thomas W. Sadler

      Article first published online: 14 JUL 2015 | DOI: 10.1002/ajmg.a.37234

  45. Correspondences

  46. Research Articles

  47. Clinical Reports

  48. Research Articles

  49. Invited Comments

  50. Research Letters

    1. Trisomy 15 mosaicism: Challenges in prenatal diagnosis

      Marisa Silva, Cristina Alves, Sónia Pedro, Bárbara Marques, Cristina Ferreira, José Furtado, Ana Teresa Martins, Rosário Fernandes, Joaquim Correia and Hildeberto Correia

      Article first published online: 30 JUN 2015 | DOI: 10.1002/ajmg.a.37229

  51. Clinical Reports

    1. ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation

      Laureline Lepais, David Cheillan, Sophie Collardeau Frachon, Stéphane Hays, Gert Matthijs, Eleni Panagiotakaki, Carine Abel, Patrick Edery and Massimiliano Rossi

      Article first published online: 30 JUN 2015 | DOI: 10.1002/ajmg.a.37232

  52. Research Articles

    1. Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes

      Benjamin Gollasch, Fitnat Buket Basmanav, Arti Nanda, Günter Fritz, Hassnaa Mahmoudi, Holger Thiele, Maria Wehner, Sabrina Wolf, Janine Altmüller, Peter Nürnberg, Jorge Frank and Regina C. Betz

      Article first published online: 30 JUN 2015 | DOI: 10.1002/ajmg.a.37233

  53. Research Letters

    1. A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

      Masaki Takagi, Masanori Kouwaki, Koya Kawase, Hiroyuki Shinohara, Yukihiro Hasegawa, Takahiro Yamada, Ikuma Fujiwara, Hideaki Sawai, Gen Nishimura and Tomonobu Hasegawa

      Article first published online: 30 JUN 2015 | DOI: 10.1002/ajmg.a.37231

  54. Research Articles

    1. Aortic dimensions in Turner syndrome

      Emilio Quezada, Jodi Lapidus, Robin Shaughnessy, Zunqiu Chen and Michael Silberbach

      Article first published online: 27 JUN 2015 | DOI: 10.1002/ajmg.a.37208

  55. Clinical Reports

    1. Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

      N. Houcinat, B. Llanas, S. Moutton, J. Toutain, D. Cailley, B. Arveiler, C. Combe, D. Lacombe and C. Rooryck

      Article first published online: 26 JUN 2015 | DOI: 10.1002/ajmg.a.37212

    2. 10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

      Nancy Choucair, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané and Eliane Chouery

      Article first published online: 26 JUN 2015 | DOI: 10.1002/ajmg.a.37211

  56. Rapid Communications

    1. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

      Elizabeth J. Bhoj, Dong Li, Margaret H. Harr, Lifeng Tian, Tiancheng Wang, Yan Zhao, Haijun Qiu, Cecilia Kim, Jodi D. Hoffman, Hakon Hakonarson and Elaine H. Zackai

      Article first published online: 25 JUN 2015 | DOI: 10.1002/ajmg.a.37217

  57. Research Articles

    1. Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders

      Addie Nesbitt, Elizabeth J. Bhoj, Kristin McDonald Gibson, Zhenming Yu, Elizabeth Denenberg, Mahdi Sarmady, Tanya Tischler, Kajia Cao, Holly Dubbs, Elaine H Zackai and Avni Santani

      Article first published online: 25 JUN 2015 | DOI: 10.1002/ajmg.a.37221

  58. Research Letters

  59. Research Articles

    1. When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina

      Caleb P. Bupp, Sara M. Sarasua, Jane H. Dean and Roger E. Stevenson

      Article first published online: 24 JUN 2015 | DOI: 10.1002/ajmg.a.37168

  60. Erratum

    1. You have free access to this content
      Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17–19, 2014

      Judith G. Hall, Olga Agranovich, Eva Pontén and Harold J.P. van Bosse

      Article first published online: 24 JUN 2015 | DOI: 10.1002/ajmg.a.37219

      This article corrects:

      Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17-19, 2014

      Vol. 167, Issue 6, 1193–1195, Article first published online: 5 APR 2015

  61. Clinical Reports

    1. A girl with incomplete Prader–Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array

      Anita Morandi, Amélie Bonnefond, Stéphane Lobbens, Marco Carotenuto, Emanuele Miraglia del Giudice, Philippe Froguel and Claudio Maffeis

      Article first published online: 24 JUN 2015 | DOI: 10.1002/ajmg.a.37222

  62. New Syndrome

    1. Dandy–Walker malformation, genitourinary abnormalities, and intellectual disability in two families

      Maha S. Zaki, Amira Masri, Anne Gregor, Joseph G. Gleeson and Rasim Ozgur Rosti

      Article first published online: 24 JUN 2015 | DOI: 10.1002/ajmg.a.37225

  63. Clinical Reports

    1. Familial 7q11.23 duplication with variable phenotype

      Siddaramappa J Patil, Smrithi Salian, Venkaraman Bhat, Katta Mohan Girisha, Yash Shrivastava, Kiran VS and Anilkumar Sapare

      Article first published online: 24 JUN 2015 | DOI: 10.1002/ajmg.a.37226

    2. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome

      Yohei Akazawa, Yuji Inaba, Akira Hachiya, Noriko Motoki, Satoshi Matsuzaki, Kenji Minatoya, Takayuki Morisaki, Hiroko Morisaki, Kenjiro Kosaki, Tomoki Kosho and Kenichi Koike

      Article first published online: 22 JUN 2015 | DOI: 10.1002/ajmg.a.37202

  64. Research Articles

    1. Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement

      Ayeshah Chaudhry, Peter Sabatini, Liping Han, Peter N. Ray, Christopher Forrest and Sarah Bowdin

      Article first published online: 22 JUN 2015 | DOI: 10.1002/ajmg.a.37218

  65. Clinical Reports

    1. Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy

      Kei Takasawa, Shigeru Takishima, Chikako Morioka, Masato Nishioka, Hirofumi Ohashi, Yoko Aoki, Masayuki Shimohira, Kenichi Kashimada and Tomohiro Morio

      Article first published online: 19 JUN 2015 | DOI: 10.1002/ajmg.a.37191

  66. Research Articles

    1. Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX

      Carole Samango-Sprouse, Colleen Keen, Francie Mitchell, Teresa Sadeghin and Andrea Gropman

      Article first published online: 18 JUN 2015 | DOI: 10.1002/ajmg.a.37198

  67. Clinical Reports

    1. A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

      Kelly L. Jones, Ulrike Schwarze, Margaret P. Adam, Peter H. Byers and Heather C. Mefford

      Article first published online: 18 JUN 2015 | DOI: 10.1002/ajmg.a.37209

  68. Research Articles

    1. You have full text access to this OnlineOpen article
      Enhancing genomic laboratory reports from the patients' view: A qualitative analysis

      Heather Stuckey, Janet L. Williams, Audrey L. Fan, Alanna Kulchak Rahm, Jamie Green, Lynn Feldman, Michele Bonhag, Doris T. Zallen, Michael M. Segal and Marc S. Williams

      Article first published online: 18 JUN 2015 | DOI: 10.1002/ajmg.a.37174

  69. Clinical Reports

    1. Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome

      Simon Poelmans, Tatsuro Kawamoto, Francesca Cristofoli, Constantinus Politis, Joris Vermeesch, Isabelle Bailleul-Forestier, Greet Hens, Koenraad Devriendt, Anna Verdonck and Carine Carels

      Article first published online: 16 JUN 2015 | DOI: 10.1002/ajmg.a.37207

  70. Research Articles

    1. Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss

      Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu-Bin Ji, Ming-Yu Han, Fei Yu, Dong-Yang Kang, Xi Lin and Pu Dai

      Article first published online: 16 JUN 2015 | DOI: 10.1002/ajmg.a.37206

  71. Book Reviews

  72. New Syndromes

    1. You have full text access to this OnlineOpen article
      De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

      Michael J Parker, Alan E Fryer, Deborah J Shears, Katherine L Lachlan, Shane A McKee, Alex C Magee, Shehla Mohammed, Pradeep C Vasudevan, Soo-Mi Park, Valérie Benoit, Damien Lederer, Isabelle Maystadt, DDD study and David R FitzPatrick

      Article first published online: 15 JUN 2015 | DOI: 10.1002/ajmg.a.37189

  73. Clinical Reports

  74. Research Articles

    1. Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients

      Frederick S. Kaplan, Joyce A. Kobori, Carmen Orellana, Inmaculada Calvo, Monica Rosello, Francisco Martinez, Berta Lopez, Meiqi Xu, Robert J. Pignolo, Eileen M. Shore and Jay C. Groppe

      Article first published online: 11 JUN 2015 | DOI: 10.1002/ajmg.a.37205

    2. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant

      Majida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, Valérie Desquiret-Dumas, Naig Gueguen, Isabelle Meunier, Jean Leid, Frédéric Massal, Xavier Zanlonghi, Jacques Mercier, Eric Raynaud de Mauverger, Vincent Procaccio, Bénédicte Mousson de Camaret, Guy Lenaers and Christian P. Hamel

      Article first published online: 10 JUN 2015 | DOI: 10.1002/ajmg.a.37188

  75. Corrigendum

    1. You have free access to this content
      Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation”

      Mark N. Ziats, Matthew S. Comeaux, Yaping Yang, Fernando Scaglia, Sarah H. Elsea, Qin Sun, Arthur L. Beaudet and Christian P. Schaaf

      Article first published online: 10 JUN 2015 | DOI: 10.1002/ajmg.a.37192

      This article corrects:

      Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation

      Vol. 167, Issue 9, 2162–2167, Article first published online: 5 MAY 2015

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