American Journal of Medical Genetics Part A

Cover image for Vol. 170 Issue 2

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 - 120
  1. Research Articles

    1. Novel myopathy in a newborn with Shwachman–Diamond syndrome and review of neonatal presentation

      Alexandra Topa, Mar Tulinius, Anders Oldfors and Carola Hedberg-Oldfors

      Article first published online: 11 FEB 2016 | DOI: 10.1002/ajmg.a.37593

  2. Clinical Reports

    1. Tatton–Brown–Rahman syndrome due to 2p23 microdeletion

      Nobuhiko Okamoto, Yasuhisa Toribe, Keiko Shimojima and Toshiyuki Yamamoto

      Article first published online: 11 FEB 2016 | DOI: 10.1002/ajmg.a.37588

  3. Research Articles

    1. Clairvoyance

      Emily Urquhart

      Article first published online: 11 FEB 2016 | DOI: 10.1002/ajmg.a.37586

  4. Clinical Reports

    1. Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype

      Claudia Cesaretti, Luigina Spaccini, Andrea Righini, Cecilia Parazzini, Giorgio Conte, Francesca Crosti, Serena Redaelli, Gaetano Bulfamante, Laura Avagliano and Mariangela Rustico

      Article first published online: 10 FEB 2016 | DOI: 10.1002/ajmg.a.37594

    2. A new case of malonyl-CoA decarboxylase deficiency with mild clinical features

      Huan Liu, Dongqiong Tan, Lianshu Han, Jun Ye, Wenjuan Qiu, Xuefan Gu and Huiwen Zhang

      Article first published online: 9 FEB 2016 | DOI: 10.1002/ajmg.a.37590

    3. Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification

      Carlos R. Ferreira, Shira G. Ziegler, Ashutosh Gupta, Catherine Groden, Kevin S. Hsu and William A. Gahl

      Article first published online: 9 FEB 2016 | DOI: 10.1002/ajmg.a.37574

    4. Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing

      Jeffrey A. Schubert, Benjamin J. Landis, Amy R. Shikany, Robert B. Hinton and Stephanie M. Ware

      Article first published online: 7 FEB 2016 | DOI: 10.1002/ajmg.a.37568

    5. Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature

      Katherine Huenerberg, Michelle Hudspeth, Shayla Bergmann, Shashidhar Pai, Balvir Singh and Angie Duong

      Article first published online: 7 FEB 2016 | DOI: 10.1002/ajmg.a.37589

  5. Research Articles

    1. Duplication 2p25 in a child with clinical features of CHARGE syndrome

      Ethan D. Sperry, Jane L. Schuette, Conny M. A. van Ravenswaaij-Arts, Glenn E. Green and Donna M. Martin

      Article first published online: 6 FEB 2016 | DOI: 10.1002/ajmg.a.37592

  6. Clinical Reports

    1. Clinical delineation of the PACS1-related Syndrome—Report on 19 Patients

      Janneke H. M. Schuurs-Hoeijmakers, Megan L. Landsverk, Nicola Foulds, Mary K. Kukolich, Ralitza H. Gavrilova, Stephanie Greville-Heygate, Andrea Hanson-Kahn, Jonathan A. Bernstein, Jennifer Glass, David Chitayat, Thomas A. Burrow, Ammar Husami, Kathleen Collins, Katie Wusik, Nathalie van der Aa, Frank Kooy, Kate Tatton Brown, Dorothea Gadzicki, Usha Kini, Sara Alvarez, Alberto Fernández-Jaén, Frank McGehee, Katherine Selby, Maja Tarailo-Graovac, Margot Van Allen, Clara D. M. van Karnebeek, Dimitri J. Stavropoulos, Christian R. Marshall, Daniele Merico, Anne Gregor, Christiane Zweier, Robert J. Hopkin, Yoyo Wing-Yiu Chu, Brian Hon-Yin Chung, Bert B. A. de Vries, Koenraad Devriendt, DDD study, Matthew E. Hurles and Han G. Brunner

      Article first published online: 3 FEB 2016 | DOI: 10.1002/ajmg.a.37476

    2. Bosma arhina microphthalmia syndrome: Clinical report and review of the literature

      Benjamin Brasseur, Cindy M. Martin, Zuzan Cayci, Lynn Burmeister and Lisa A. Schimmenti

      Article first published online: 3 FEB 2016 | DOI: 10.1002/ajmg.a.37572

    3. Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome

      Sergio Cabrera, Chantal Morel and Maria Carmela Tartaglia

      Article first published online: 3 FEB 2016 | DOI: 10.1002/ajmg.a.37552

  7. Research Articles

    1. ADAT3-related intellectual disability: Further delineation of the phenotype

      Ayman W. El-Hattab, Mohammed A. Saleh, Amal Hashem, Mohammed Al-Owain, Ali Al Asmari, Hala Rabei, Hanem Abdelraouf, Mais Hashem, Anas M. Alazami, Nisha Patel, Ranad Shaheen, Eissa A. Faqeih and Fowzan S. Alkuraya

      Article first published online: 3 FEB 2016 | DOI: 10.1002/ajmg.a.37578

    2. Enhancing genomic laboratory reports: A qualitative analysis of provider review

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

      Article first published online: 3 FEB 2016 | DOI: 10.1002/ajmg.a.37573

  8. Clinical Reports

    1. Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay

      Marta Smyk, Anna Poluha, Ilona Jaszczuk, Magdalena Bartnik, Joanna Bernaciak and Beata Nowakowska

      Article first published online: 2 FEB 2016 | DOI: 10.1002/ajmg.a.37579

    2. Clinical and pathologic features of Aicardi–Goutières syndrome due to an IFIH1 mutation: A pediatric case report

      Florent Marguet, Annie Laquerrière, Alice Goldenberg, Anne-Marie Guerrot, Olivier Quenez, Philippe Flahaut, Catherine Vanhulle, Clémentine Dumant-Forest, Françoise Charbonnier, Myriam Vezain, Soumeya Bekri, Isabelle Tournier, Thierry Frébourg and Gaël Nicolas

      Article first published online: 1 FEB 2016 | DOI: 10.1002/ajmg.a.37577

    3. Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech

      Carole Samango-Sprouse, Patrick Lawson, Courtney Sprouse, Emily Stapleton, Teresa Sadeghin and Andrea Gropman

      Article first published online: 1 FEB 2016 | DOI: 10.1002/ajmg.a.37575

  9. Research Articles

    1. Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations

      Seemi Ayub, Macoura Gadji, Kada Krabchi, Sylvie Côté, Jean Gekas, Bruno Maranda and Régen Drouin

      Article first published online: 29 JAN 2016 | DOI: 10.1002/ajmg.a.37428

    2. Use of metaphors about exome and whole genome sequencing

      Sarah C. Nelson, Julia M. Crouch, Michael J. Bamshad, Holly K. Tabor and Joon-Ho Yu

      Article first published online: 29 JAN 2016 | DOI: 10.1002/ajmg.a.37571

  10. Research Letters

    1. Metatropic dysplasia is associated with increased fracture risk

      Michael B. Bober, Angela L. Duker, Megan Carney, Colleen P. Ditro, Kenneth Rogers and William G. Mackenzie

      Article first published online: 29 JAN 2016 | DOI: 10.1002/ajmg.a.37576

  11. Research Articles

    1. Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

      Malte Spielmann, Sylvie Marx, Gotthold Barbi, Ricarda Flöttmann, Hildegard Kehrer-Sawatzki, Rainer König, Denise Horn, Stefan Mundlos, Sean Nader and Guntram Borck

      Article first published online: 29 JAN 2016 | DOI: 10.1002/ajmg.a.37560

    2. CLTC as a clinically novel gene associated with multiple malformations and developmental delay

      Joseph DeMari, Cameron Mroske, Sha Tang, Joseph Nimeh, Ryan Miller and Robert R. Lebel

      Article first published online: 29 JAN 2016 | DOI: 10.1002/ajmg.a.37506

  12. Correspondences

    1. A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

      Melissa Lah, Tejasvi Niranjan, Sujata Srikanth, Lynda Holloway, Charles E. Schwartz, Tao Wang and David D. Weaver

      Article first published online: 24 JAN 2016 | DOI: 10.1002/ajmg.a.37567

  13. Research Articles

    1. Crisponi/CISS1 syndrome: A case series

      Amal M. Alhashem, Muhammad Ali Majeed–Saidan, Amer N. Ammari, Maha S. Alrakaf, Maha Nojoom, Sateesh Maddirevula, Eissa Faqeih, Fowzan S. Alkuraya, Ester Garne and Ahmad M. Kurdi

      Article first published online: 24 JAN 2016 | DOI: 10.1002/ajmg.a.37569

  14. Clinical Reports

    1. An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing

      Luisa Mackenroth, Björn Fischer-Zirnsak, Johannes Egerer, Jochen Hecht, Tilmann Kallinich, Werner Stenzel, Birgit Spors, Arpad von Moers, Stefan Mundlos, Uwe Kornak, Kerstin Gerhold and Denise Horn

      Article first published online: 22 JAN 2016 | DOI: 10.1002/ajmg.a.37547

    2. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

      Shahida Moosa, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Virginia Fano and Bernd Wollnik

      Article first published online: 21 JAN 2016 | DOI: 10.1002/ajmg.a.37570

  15. Research Articles

    1. Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

      Michael C. Leo, Carmit McMullen, Benjamin S. Wilfond, Frances L. Lynch, Jacob A. Reiss, Marian J. Gilmore, Patricia Himes, Tia L. Kauffman, James V. Davis, Gail P. Jarvik, Jonathan S. Berg, Cary Harding, Kathleen A. Kennedy, Dana Kostiner Simpson, Denise I. Quigley, C. Sue Richards, Alan F. Rope and Katrina A. B. Goddard

      Article first published online: 21 JAN 2016 | DOI: 10.1002/ajmg.a.37477

    2. TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population

      Yajing Qian, Dandan Li, Lan Ma, Hongchuang Zhang, Miao Gong, Sheng Li, Hua Yuan, Weibing Zhang, Junqing Ma, Hongbing Jiang, Yongchu Pan and Lin Wang

      Article first published online: 21 JAN 2016 | DOI: 10.1002/ajmg.a.37561

  16. Research Letters

    1. Stippled calcification in an infant with a recurrent SRCAP gene mutation

      Hiroko Yagi, Masaki Takagi, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura and Yukihiro Hasegawa

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37516

  17. Clinical Reports

    1. Trisomy 4 mosaicism: Delineation of the phenotype

      Arjan Bouman, Anne-Marie van der Kevie-Kersemaekers, Karin Huijsdens-van Amsterdam, Nordin Dahhan, Lia Knegt, Fleur Vansenne and Jan Maarten Cobben

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37522

  18. Research Articles

    1. Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

      Erkan Sari, Abdullah Bereket, Ediz Yeşilkaya, Firdevs Baş, Rüveyde Bundak, Banu Küçükemre Aydın, Şükran Darcan, Bumin Dündar, Muammer Büyükinan, Cengiz Kara, Erdal Adal, Ayşehan Akıncı, Mehmet Emre Atabek, Fatma Demirel, Nurullah Çelik, Behzat Özkan, Bayram Özhan, Zerrin Orbak, Betül Ersoy, Murat Doğan, Ali Ataş, Serap Turan, Damla Gökşen, Ömer Tarım, Bilgin Yüksel, Oya Ercan, Şükrü Hatun, Enver Şimşek, Ayşenur Ökten, Ayhan Abacı, Hakan Döneray, Mehmet Nuri Özbek, Mehmet Keskin, Hasan Önal, Nesibe Akyürek, Kezban Bulan, Derya Tepe, Hamdi Cihan Emeksiz, Korcan Demir, Deniz Kızılay, Ali Kemal Topaloğlu, Erdal Eren, Samim Özen, Hüseyin Demirbilek, Saygın Abalı, Leyla Akın, Beray Selver Eklioğlu, Sultan Kaba, Ahmet Anık, Serpil Baş, Tolga Unuvar, Halil Sağlam, Semih Bolu, Tolga Özgen, Durmuş Doğan, Esra Deniz Çakır, Yaşar Şen, Nesibe Andıran, Filiz Çizmecioğlu, Olcay Evliyaoğlu, Gülay Karagüzel, Özgür Pirgon, Gönül Çatlı, Hatice Dilek Can, Fatih Gürbüz, Çiğdem Binay, Veysel Nijat Baş, Kürşat Fidancı, Davut Gül, Adem Polat, Cengizhan Acıkel, Peyami Cinaz and Feyza Darendeliler

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37498

  19. Clinical Reports

    1. A female newborn having mosaicism with near-tetraploidy and trisomy 18

      Yuka Wada, Satsuki Kakiuchi, Koichi Mizuguchi, Tomoo Nakamura, Yushi Ito, Haruhiko Sago and Rika Kosaki

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37558

  20. Research Articles

    1. Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts

      Julia E. VanderMeer, Tonia C. Carter, Faith Pangilinan, Adam Mitchell, Emma Kurnat-Thoma, Peadar N. Kirke, James F. Troendle, Anne M. Molloy, Ronald G. Munger, Marcia L. Feldkamp, Maria A. Mansilla, James L. Mills, Jeff C. Murray and Lawrence C. Brody

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37539

    2. Postnatal outcomes of prenatally diagnosed 45,X/46,XX

      Mari J. Tokita and Virginia P. Sybert

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37551

  21. Clinical Reports

    1. Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta

      Takumi Shibazaki, Koichi Hirabayashi, Shoji Saito, Tomonari Shigemura, Yozo Nakazawa, Kazuo Sakashita, Mineo Takagi, Masaaki Shiohara, Kaori Adachi, Eiji Nanba, Norio Sakai and Kenichi Koike

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37563

    2. The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin

      Agnieszka Tomaszewska, Jakub Behrendt, Marjan Boter, Angelika Wawrzkiewicz-Witkowska, Marnix J. Bos, Agnieszka Podbiol-Palenta, Urszula Godula-Stuglik, Robert-Jan H. Galjaard and Malgorzata I. Srebniak

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37565

  22. Research Articles

    1. Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

      Jill Urquhart, Rebecca Roberts, Deepthi de Silva, Stavit Shalev, Elena Chervinsky, Sheela Nampoothiri, Yves Sznajer, Nicole Revencu, Romesh Gunasekera, Mohnish Suri, Jamie Ellingford, Simon Williams, Sanjeev Bhaskar and Jill Clayton-Smith

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37564

    2. A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review

      Nancy Merner, Baudouin Forgeot d'Arc, Scott C. Bell, Gilles Maussion, Huashan Peng, Julie Gauthier, Liam Crapper, Fadi F. Hamdan, Jacques L. Michaud, Laurent Mottron, Guy A. Rouleau and Carl Ernst

      Article first published online: 20 JAN 2016 | DOI: 10.1002/ajmg.a.37566

  23. Clinical Reports

    1. Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit

      Yoshika Akizawa, Toshiyuki Miyashita, Ryo Sasaki, Reiko Nagata, Ryoko Aoki, Ken Ishitani, Yoji Nagashima, Hideo Matsui and Kayoko Saito

      Article first published online: 18 JAN 2016 | DOI: 10.1002/ajmg.a.37517

  24. Research Articles

    1. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

      Satoshi Watanabe, Kenji Shimizu, Hirofumi Ohashi, Rika Kosaki, Nobuhiko Okamoto, Keiko Shimojima, Toshiyuki Yamamoto, Yasutsugu Chinen, Seiji Mizuno, Yuri Dowa, Natsuko Shiomi, Yoshihiro Toda, Katsuya Tashiro, Koichi Shichijo, Kazunori Minatozaki, Seijiro Aso, Kyoko Minagawa, Yoko Hiraki, Osamu Shimokawa, Tadashi Matsumoto, Masafumi Fukuda, Hiroyuki Moriuchi, Koh-ichiro Yoshiura and Tatsuro Kondoh

      Article first published online: 18 JAN 2016 | DOI: 10.1002/ajmg.a.37496

  25. Clinical Reports

    1. Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations

      Raquel M. Fernández, Javier Sánchez, Lutgardo García-Díaz, Yolanda Peláez-Nora, Antonio González-Meneses, Guillermo Antiñolo and Salud Borrego

      Article first published online: 14 JAN 2016 | DOI: 10.1002/ajmg.a.37559

  26. Research Articles

    1. Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

      Gary S. Gottesman, Katherine L. Madson, William H. McAlister, Angela Nenninger, Deborah Wenkert, Steven Mumm and Michael P. Whyte

      Article first published online: 14 JAN 2016 | DOI: 10.1002/ajmg.a.37536

    2. Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

      Karen G. Scheps, Liliana Francipane, Julián Nevado, Nora Basack, Myriam Attie, María Fernanda Bergonzi, Gloria E. Cerrone, Pablo Lapunzina and Viviana Varela

      Article first published online: 11 JAN 2016 | DOI: 10.1002/ajmg.a.37532

  27. Clinical Reports

    1. Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

      Resham Ejaz, Wen Qin, Lijia Huang, Susan Blaser, Martine Tetreault, Taila Hartley, Care4Rare Canada Consortium, Kym M. Boycott and Melissa T. Carter

      Article first published online: 11 JAN 2016 | DOI: 10.1002/ajmg.a.37541

  28. Correspondences

  29. Research Letters

    1. Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype

      Patrick Yap, Jan E. Liebelt, David J. Amor, Lynette Moore and Ravi Savarirayan

      Article first published online: 11 JAN 2016 | DOI: 10.1002/ajmg.a.37548

  30. Conference Reports

    1. 12th international CHARGE syndrome conference proceedings

      Donna M. Martin, Nancy Salem-Hartshorne, Timothy S. Hartshorne, Peter C. Scacheri and Margaret A. Hefner

      Article first published online: 11 JAN 2016 | DOI: 10.1002/ajmg.a.37544

  31. Clinical Reports

    1. Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene

      Luisa Ronzoni, Francesco Tagliaferri, Arianna Tucci, Marco Baccarin, Susanna Esposito and Donatella Milani

      Article first published online: 11 JAN 2016 | DOI: 10.1002/ajmg.a.37553

  32. Research Letters

    1. A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia

      Kosei Hasegawa, Rie Fukuhara, Tadashi Moriwake, Hiroyuki Tanaka, Yousuke Higuchi, Miho Yamashita and Hirokazu Tsukahara

      Article first published online: 11 JAN 2016 | DOI: 10.1002/ajmg.a.37557

  33. Correspondences

    1. Response: “Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy” and “is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?”

      Klane K. White, Ravi Savarirayan, Michael J. Goldberg, William MacKenzie, Viviana Bompadre, Michael B. Bober, Tae-Joon Cho, Julie Hoover-Fong, Shawn E. Parnell, Cathleen Raggio, Samantha A. Spencer, Jeffery W. Campbell, David M. Rapoport, Yemiserach Kifle and Marcella Blackledge

      Article first published online: 11 JAN 2016 | DOI: 10.1002/ajmg.a.37546

  34. Research Articles

    1. Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

      Beyhan Tüysüz, Adife Gülhan Ercan-Sencicek, Nur Canpolat, Asuman Koparır, Saliha Yılmaz, Işın Kılıçaslan, Burcu Gülez, Kaya Bilguvar and Murat Günel

      Article first published online: 8 JAN 2016 | DOI: 10.1002/ajmg.a.37543

  35. Clinical Reports

    1. Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications

      Mona K. Mekkawy, Inas M. Mazen, Alaa K. Kamel, Inga Vater and Maha S. Zaki

      Article first published online: 8 JAN 2016 | DOI: 10.1002/ajmg.a.37523

    2. Novel copy number variants and major limb reduction malformation: Report of three cases

      Hanan E. Shamseldin, Shams Anazi, Salma M. Wakil, Eissa Faqeih, Heba Y. El Khashab, Mustafa A. Salih, Mohammad M. Al-Qattan, Mais Hashem, Haifa Alsedairy and Fowzan S. Alkuraya

      Article first published online: 8 JAN 2016 | DOI: 10.1002/ajmg.a.37550

  36. Research Letters

    1. Long-term treatment of neurofibromatosis 1 with ketotifen. A report of three cases

      Pedro Rodriguez-Jimenez, Pablo Chicharro, Elia Muñoz and Esteban Dauden

      Article first published online: 6 JAN 2016 | DOI: 10.1002/ajmg.a.37531

  37. Clinical Reports

  38. Invited Comments

  39. Research Articles

    1. Muenke syndrome: An international multicenter natural history study

      Paul Kruszka, Yonit A. Addissie, Colin M. P. Yarnell, Donald W. Hadley, Maria J. Guillen Sacoto, Petra Platte, Yvonne Paelecke, Hartmut Collmann, Nicole Snow, Tilmann Schweitzer, Simeon A. Boyadjiev, Christos Aravidis, Samantha E. Hall, John B. Mulliken, Tony Roscioli and Maximilian Muenke

      Article first published online: 6 JAN 2016 | DOI: 10.1002/ajmg.a.37528

    2. You have full text access to this OnlineOpen article
      Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

      Megan R. Glassford, Jill A. Rosenfeld, Alexa A. Freedman, Michael E. Zwick, Unique Rare Chromosome Disorder Support Group and Jennifer G. Mulle

      Article first published online: 6 JAN 2016 | DOI: 10.1002/ajmg.a.37537

    3. Decline of CSF orexin (hypocretin) levels in Prader–Willi syndrome

      Mayu Omokawa, Tadayuki Ayabe, Toshiro Nagai, Aya Imanishi, Ayumi Omokawa, Seiji Nishino, Yohei Sagawa, Tetsuo Shimizu and Takashi Kanbayashi

      Article first published online: 6 JAN 2016 | DOI: 10.1002/ajmg.a.37542

  40. Clinical Reports

  41. Research Letters

    1. Confirming the candidacy of THOC6 in the etiology of intellectual disability

      Shamsa Anazi, Muneera Alshammari, Dorota Moneis, Mohamed Abouelhoda, Niema Ibrahim and Fowzan S. Alkuraya

      Article first published online: 6 JAN 2016 | DOI: 10.1002/ajmg.a.37549

  42. Research Articles

    1. Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene

      Rasim O. Rosti, Esra Dikoglu, Maha S. Zaki, Ghada Abdel-Salam, Nawal Makhseed, Jordan C. Sese, Damir Musaev, Basak Rosti, Mary J. Harbert, Marilyn C. Jones, Keith K. Vaux and Joseph G. Gleeson

      Article first published online: 5 JAN 2016 | DOI: 10.1002/ajmg.a.37533

  43. Research Letters

  44. Clinical Reports

    1. Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome

      Gabriela E. Jones, Lisa Robertson, Amit Maniyar, Christos Shammas, Marie M. Phelan, Pradeep C. Vasudevan and George A. Tanteles

      Article first published online: 5 JAN 2016 | DOI: 10.1002/ajmg.a.37511

  45. Research Articles

    1. Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention

      Akila Subramaniam, Adam P. Jacobs, Ying Tang, Cherry Neely, Joseph B. Philips III, Joseph R. Biggio, Nathaniel H. Robin and Rodney K. Edwards

      Article first published online: 5 JAN 2016 | DOI: 10.1002/ajmg.a.37529

  46. Clinical Reports

    1. A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

      Thuong T. Ha, Lynette G. Sadleir, Simone A. Mandelstam, Sarah J. Paterson, Ingrid E. Scheffer, Jozef Gecz and Mark A. Corbett

      Article first published online: 28 DEC 2015 | DOI: 10.1002/ajmg.a.37527

  47. Rapid Communications

    1. Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

      Toshiki Takenouchi, Nobuhiko Okamoto, Shinobu Ida, Tomoko Uehara and Kenjiro Kosaki

      Article first published online: 28 DEC 2015 | DOI: 10.1002/ajmg.a.37526

  48. Research Letters

    1. Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome

      Glynis Frans, Isabelle Meyts, Koen Devriendt, Adrian Liston, François Vermeulen and Xavier Bossuyt

      Article first published online: 24 DEC 2015 | DOI: 10.1002/ajmg.a.37499

  49. Clinical Reports

    1. Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation

      Serena Motta, Debora Sala, Alessandra Sala, Giovanni Cazzaniga, Giovanni Giudici, Nicoletta Villa, Andrea Biondi and Angelo Selicorni

      Article first published online: 24 DEC 2015 | DOI: 10.1002/ajmg.a.37504

    2. Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

      Ramakrishnan Rajagopalan, Christopher M. Grochowski, Melissa A. Gilbert, Alexandra M. Falsey, Karlene Coleman, Rene Romero, Kathleen M. Loomes, David A. Piccoli, Marcella Devoto and Nancy B. Spinner

      Article first published online: 24 DEC 2015 | DOI: 10.1002/ajmg.a.37512

    3. FTO variant associated with malformation syndrome

      Luis Rohena, Michelle Lawson, Edwin Guzman, Mythily Ganapathi, Megan T. Cho, Eden Haverfield and Kwame Anyane-Yeboa

      Article first published online: 24 DEC 2015 | DOI: 10.1002/ajmg.a.37515

  50. Research Articles

    1. Duplications upstream and downstream of SHOX identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature

      David J. Bunyan, Maria Baffico, Lucia Capone, Silvia Vannelli, Lorenzo Iughetti, Sébastien Schmitt, Emma-Jane Taylor, Adam A. Herridge, Deborah Shears, Antonino Forabosco and Domenico A. Coviello

      Article first published online: 24 DEC 2015 | DOI: 10.1002/ajmg.a.37524

  51. Clinical Reports

    1. A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35

      Christopher Smith, Ryan E. Lamont, Andrew Wade, Francois P. Bernier, Jillian S. Parboosingh and A. Micheil Innes

      Article first published online: 22 DEC 2015 | DOI: 10.1002/ajmg.a.37514

  52. Research Articles

    1. Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

      Sarah E. Grams, Bob Argiropoulos, Matthew Lines, Pranesh Chakraborty, Jean Mcgowan-Jordan, Michael T. Geraghty, Marilyn Tsang, Marthand Eswara, Kamer Tezcan, Kelly L. Adams, Leesa Linck, Patricia Himes, Dana Kostiner, Dina J. Zand, Heather Stalker, Daniel J. Driscoll, Taosheng Huang, Jill A. Rosenfeld, Xu Li and Emily Chen

      Article first published online: 22 DEC 2015 | DOI: 10.1002/ajmg.a.37519

  53. Clinical Reports

    1. Distinctive findings in a boy with Simpson–Golabi–Behmel syndrome

      Soumeyya Halayem, Mariem Hamza, Faouzi Maazoul, Hadhemi Ben Turkia, Maissa Touati, Neji Tebib, Ridha Mrad and Asma Bouden

      Article first published online: 22 DEC 2015 | DOI: 10.1002/ajmg.a.37518

    2. Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature

      Ana Pinheiro Machado Canton, Mirian Yumie Nishi, Tatiane Katsue Furuya, Rosimeire Aparecida Roela and Alexander Augusto Lima Jorge

      Article first published online: 22 DEC 2015 | DOI: 10.1002/ajmg.a.37521

  54. Research Articles

    1. You have free access to this content
      Family perspectives about Down syndrome

      Brian G. Skotko, Susan P. Levine, Eric A. Macklin and Richard D. Goldstein

      Article first published online: 22 DEC 2015 | DOI: 10.1002/ajmg.a.37520

  55. New Syndrome

    1. Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R

      Paldeep Singh Atwal, Sophie Blease, Alicia Braxton, Julia Graves, Weimin He, Richard Person, Leah Slattery, Jonathan Adam Bernstein and Louanne Hudgins

      Article first published online: 21 DEC 2015 | DOI: 10.1002/ajmg.a.37491

  56. Research Articles

    1. Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

      Amy Epstein, Helen Leonard, Elise Davis, Katrina Williams, Dinah Reddihough, Nada Murphy, Andrew Whitehouse and Jenny Downs

      Article first published online: 21 DEC 2015 | DOI: 10.1002/ajmg.a.37500

    2. Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses

      Marco Castori, Francesca Servadei, Luigi Laino, Giulia Pascolini, Romano Fabbri, Anna Elisabetta Cifani, Giovanna Scassellati Sforzolini, Evelina Silvestri and Paola Grammatico

      Article first published online: 21 DEC 2015 | DOI: 10.1002/ajmg.a.37510

    3. Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo–Cardio–Facial) syndrome

      Francesca Clementina Radio, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Marta Unolt, Viola Alesi, Antonio Novelli, Bruno Marino and Bruno Dallapiccola

      Article first published online: 21 DEC 2015 | DOI: 10.1002/ajmg.a.37503

    4. Sleep disturbance in Mowat–Wilson syndrome

      Elizabeth Evans, David Mowat, Meredith Wilson and Stewart Einfeld

      Article first published online: 21 DEC 2015 | DOI: 10.1002/ajmg.a.37502

    5. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

      Giulio Calcagni, Anwar Baban, Enrica De Luca, Benedetta Leonardi, Giacomo Pongiglione and Maria Cristina Digilio

      Article first published online: 21 DEC 2015 | DOI: 10.1002/ajmg.a.37505

    6. Rare copy number variants implicated in posterior urethral valves

      Nansi S. Boghossian, Robert J. Sicko, Denise M. Kay, Shannon L. Rigler, Michele Caggana, Michael Y. Tsai, Edwina H. Yeung, Nathan Pankratz, Benjamin R. Cole, Charlotte M. Druschel, Paul A. Romitti, Marilyn L. Browne, Ruzong Fan, Aiyi Liu, Lawrence C. Brody and James L. Mills

      Article first published online: 14 DEC 2015 | DOI: 10.1002/ajmg.a.37493

  57. Clinical Reports

    1. Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features

      Ignacio Arroyo Carrera, María Solo de Zaldívar, Rebeca Martín, Matthias Begemann, Lukas Soellner and Thomas Eggermann

      Article first published online: 10 DEC 2015 | DOI: 10.1002/ajmg.a.37492

  58. Research Articles

    1. Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study

      Robert E. Meyer, Gang Liu, Suzanne M. Gilboa, Mary K. Ethen, Arthur S. Aylsworth, Cynthia M. Powell, Timothy J. Flood, Cara T. Mai, Ying Wang, Mark A. Canfield and for the National Birth Defects Prevention Network

      Article first published online: 10 DEC 2015 | DOI: 10.1002/ajmg.a.37495

  59. Research Letters

  60. Research Articles

    1. MRI/MRS as a surrogate marker for clinical progression in GM1 Gangliosidosis

      Debra S. Regier, Hyuk Joon Kwon, Jean Johnston, Gretchen Golas, Sandra Yang, Edythe Wiggs, Yvonne Latour, Sarah Thomas, Cindy Portner, David Adams, Gilbert Vezina, Eva H. Baker and Cynthia J. Tifft

      Article first published online: 8 DEC 2015 | DOI: 10.1002/ajmg.a.37468

  61. Clinical Reports

    1. Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features

      Graeme A. M. Nimmo, Andrea Guerin, Ramses Badilla-Porras, Dimitri J. Stavropoulos, Grace Yoon and Melissa T. Carter

      Article first published online: 8 DEC 2015 | DOI: 10.1002/ajmg.a.37483

    2. Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

      Marshall I. B. Fontes, Ana P. Santos, Miriam C. Molck, Milena Simioni, Diogo L. L. Nascimento, Ana K. M. Andrade, Carla Rosenberg, Ana C. V. Krepischi, Simone Appenzeller, Isabella L. Monlleó and Vera Lúcia Gil-da-Silva-Lopes

      Article first published online: 7 DEC 2015 | DOI: 10.1002/ajmg.a.37494

    3. A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

      Gökhan Yigit, Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Claudia Möller-Hartmann, Janine Altmüller, Holger Thiele, Peter Nürnberg and Bernd Wollnik

      Article first published online: 6 DEC 2015 | DOI: 10.1002/ajmg.a.37484

    4. Gershoni-Baruch syndrome: First report of a surviving child

      Laura Valfrè, Anwar Baban, Maria Cristina Digilio, Francesca Bevilacqua, Pietro Bagolan and Andrea Conforti

      Article first published online: 6 DEC 2015 | DOI: 10.1002/ajmg.a.37480

  62. Book Reviews

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