American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

September 2012

Volume 158A, Issue 9

Pages C1–C1, fm i–fm v, vii–x, 2091–2371

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Letters
    9. Reviewer Listing
    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. Research Reviews
    7. Clinical Reports
    8. Research Letters
    9. Reviewer Listing
    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. Research Reviews
    7. Clinical Reports
    8. Research Letters
    9. Reviewer Listing
    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)

      Article first published online: 24 AUG 2012 | DOI: 10.1002/ajmg.a.35647

  4. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Letters
    9. Reviewer Listing
    1. Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype (pages 2091–2099)

      Judith Allanson, Amanda Smith, Heather Hare, Beate Albrecht, Emilia Bijlsma, Bruno Dallapiccola, Emilio Donti, David Fitzpatrick, Bertrand Isidor, Katherine Lachlan, Cedric Le Caignec, Paolo Prontera, Annick Raas-Rothschild, Daniela Rogaia, Bregje van Bon, Swaroop Aradhya, Susan F. Crocker, Olga Jarinova, Jean McGowan-Jordan, Kym Boycott, Dennis Bulman and Christina Ringmann Fagerberg

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35446

    2. Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening (pages 2100–2105)

      Sharon Anderson, Christina Botti, Bo Li, James H. Millonig, Elaine Lyon, Alison Millson, Suzanne S.M. Karabin and Susan Sklower Brooks

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35448

    3. A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development (pages 2106–2118)

      Karen W. Gripp, Eugenia Bifeld, Deborah L. Stabley, Elizabeth Hopkins, Stefanie Meien, Kathy Vinette, Katia Sol-Church and Georg Rosenberger

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35449

    4. Identification of the mechanism underlying a human chimera by SNP array analysis (pages 2119–2123)

      So Youn Shin, Han-Wook Yoo, Beom Hee Lee, Kun Suk Kim and Eul-Ju Seo

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35476

    5. Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2 (pages 2124–2130)

      Rachaneekorn Tammachote, Nelawat Kingsuwannapong, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Patra Yeetong, Pornchai Kingwatanakul, Carla G. Monico, Kanya Suphapeetiporn and Vorasuk Shotelersuk

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35495

    6. Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II (pages 2131–2138)

      Sung Hwa Hong, Hosuk Chu, Ki Ryung Kim, Moon Hee Ko, See Youn Kwon, Il Joon Moon, Won-Ho Chung, Yang-Sun Cho, Chi-Hwa Kim, Myung-Whan Suh, Eun Wha Choi, Young Bae Sohn, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Ah-Ra Ko and Dong-Kyu Jin

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35498

    7. Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region (pages 2139–2151)

      Eugen-Matthias Strehle, Linbo Yu, Jill A. Rosenfeld, Sandra Donkervoort, Yulin Zhou, Tian-Jian Chen, Jose E. Martinez, Yao-Shan Fan, Deborah Barbouth, Hongbo Zhu, Alicia Vaglio, Rosemarie Smith, Cathy A. Stevens, Cynthia J. Curry, Roger L. Ladda, Zheng (Jane) Fan, Joyce E. Fox, Judith A. Martin, Hoda Z. Abdel-Hamid, Elizabeth A. McCracken, Barbara C. McGillivray, Diane Masser-Frye and Taosheng Huang

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35502

    8. Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization (pages 2152–2161)

      Cheryl DeScipio, Laura Conlin, Jill Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie T. McDonald, Swaroop Aradhya, Darlene Ho, Jennifer Goldstein, Marianne McGuire, Surabhi Mulchandani, Livija Medne, Rosemarie Rupps, Alvaro H. Serrano, Erik C. Thorland, Anne C.-H. Tsai, Yvonne Hilhorst-Hofstee, Claudia A.L. Ruivenkamp, Hilde Van Esch, Marie-Claude Addor, Danielle Martinet, Thornton B.A. Mason, Dinah Clark, Nancy B. Spinner and Ian D. Krantz

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35574

    9. Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta-analysis based on 17 case–control studies (pages 2162–2169)

      Yongchu Pan, Weibing Zhang, Junqing Ma, Yifei Du, Dandan Li, Qi Cai, Hongbing Jiang, Meilin Wang, Zhengdong Zhang and Lin Wang

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35503

    10. IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population (pages 2170–2175)

      Luciano A. Brito, Camila F.S. Bassi, Cibele Masotti, Carolina Malcher, Kátia M. Rocha, David Schlesinger, Daniela F. Bueno, Lucas A. Cruz, Ligia K. Barbara, Débora R. Bertola, Diogo Meyer, Diogo Franco, Nivaldo Alonso and Maria Rita Passos-Bueno

      Article first published online: 6 AUG 2012 | DOI: 10.1002/ajmg.a.35526

    11. Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients (pages 2176–2182)

      Marco Castori, Silvia Morlino, Chiara Dordoni, Claudia Celletti, Filippo Camerota, Marco Ritelli, Aldo Morrone, Marina Venturini, Paola Grammatico and Marina Colombi

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35506

    12. IMPAD1 mutations in two Catel-Manzke like patients (pages 2183–2187)

      Mathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, Pelin Ozlem Simsek Kiper, David Geneviève, David Sillence, Celine Huber, Arnold Munnich and Prof. Valérie Cormier-Daire

      Article first published online: 6 AUG 2012 | DOI: 10.1002/ajmg.a.35504

    13. Genotype–phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome (pages 2188–2193)

      Yanqin Zhang, Fang Wang, Jie Ding, Hongwen Zhang, Dan Zhao, Lixia Yu, Huijie Xiao, Yong Yao, Xuhui Zhong and Suxia Wang

      Article first published online: 6 AUG 2012 | DOI: 10.1002/ajmg.a.35528

    14. Thymidylate synthase polymorphisms and risk of conotruncal heart defects (pages 2194–2203)

      Huiping Zhu, Wei Yang, Nathan Shaw, Spencer Perloff, Suzan L. Carmichael, Richard H. Finnell, Gary M. Shaw and Edward J. Lammer

      Article first published online: 7 AUG 2012 | DOI: 10.1002/ajmg.a.35310

    15. SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo (pages 2204–2213)

      Alireza Baradaran-Heravi, Anja Raams, Joanna Lubieniecka, Kyoung Sang Cho, Kristi A. DeHaai, Mitra Basiratnia, Pierre-Olivier Mari, Yutong Xue, Michael Rauth, Ann Haskins Olney, Mary Shago, Kunho Choi, Rosanna A. Weksberg, Malgorzata J.M. Nowaczyk, Weidong Wang, Nicolaas G.J. Jaspers and Cornelius F. Boerkoel

      Article first published online: 7 AUG 2012 | DOI: 10.1002/ajmg.a.35532

    16. You have full text access to this OnlineOpen article
      Assessment of bone mineral status in children with Marfan syndrome (pages 2221–2224)

      Monica Grover, Nicola Brunetti-Pierri, John Belmont, Kelly Phan, Alyssa Tran, Roman J. Shypailo, Kenneth J. Ellis and Brendan H. Lee

      Article first published online: 7 AUG 2012 | DOI: 10.1002/ajmg.a.35540

  5. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Letters
    9. Reviewer Listing
    1. The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research (pages 2225–2232)

      Maria T. Acosta, Carrie E. Bearden, Xavier F. Castellanos, Laurie Cutting, Ype Elgersma, Gerard Gioia, David H. Gutmann, Yong-Seok Lee, Eric Legius, Maximillian Muenke, Kathryn North, Luis F. Parada, Nancy Ratner, Kim Hunter-Schaedle and Alcino J. Silva

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35535

  6. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Letters
    9. Reviewer Listing
    1. Pseudoaminopterin syndrome (pages 2233–2238)

      Lilia Kraoua, Yline Capri, Laurence Perrin, Abdelmajjid Benmansour and Alain Verloes

      Article first published online: 18 JUL 2012 | DOI: 10.1002/ajmg.a.35212

    2. Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype (pages 2239–2244)

      Anne Frühmesser, Edda Haberlandt, Werner Judmaier, Albert Schinzel, Barbara Utermann, Martin Erdel, Christine Fauth, Gerd Utermann, Johannes Zschocke and Dieter Kotzot

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35450

    3. Simpson–Golabi–Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia (pages 2245–2249)

      Livia Garavelli, Giancarlo Gargano, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Nives Melli, Silvia Braibanti, Chiara Gelmini, Francesca Forzano, Roberta Pietrobono, Maria Grazia Pomponi, Elena Andreucci, Annick Toutain, Andrea Superti-Furga and Giovanni Neri

      Article first published online: 17 JUL 2012 | DOI: 10.1002/ajmg.a.35474

    4. Chronic tibial nonunion in a Rothmund–Thomson syndrome patient (pages 2250–2253)

      Aaron M. Carlson, Kristen B. Thomas, Salman Kirmani and Noralane M. Lindor

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35475

    5. Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash (pages 2254–2257)

      Ellen Crushell, Daire O'Leary, Alan D Irvine, Anne O'Shea, Philip D Mayne and William Reardon

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35479

    6. Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions (pages 2266–2271)

      Roberta Onesimo, Daniela Orteschi, Maria Scalzone, Aurora Rossodivita, Lorenzo Nanni, Gian Franco Zannoni, Giacinto Marrocco, Domenica Battaglia, Carlo Fundarò and Giovanni Neri

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35489

    7. De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum (pages 2272–2276)

      Keiko Shimojima, Akihisa Okumura, Harushi Mori, Shinpei Abe, Mitsuru Ikeno, Toshiaki Shimizu and Toshiyuki Yamamoto

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35490

    8. Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication (pages 2277–2282)

      Jérôme Rambaud, Isabelle Marey, Céline Dupont, Laurence Perrin-Sabourin, Yline Capri, Anne Claude Tabet, Brigitte Benzacken, Alain Verloes, Azzedine Aboura and Marion Gérard

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35494

    9. Case report: Noonan syndrome with multiple giant cell lesions and review of the literature (pages 2283–2289)

      Julia Karbach, Wiltrud Coerdt, Wilfried Wagner and Oliver Bartsch

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35493

    10. Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family (pages 2290–2291)

      Eric Pasmant, Jeanne Amiel, Diana Rodriguez, Michel Vidaud, Dominique Vidaud and Béatrice Parfait

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35496

    11. A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male–male transmission (pages 2292–2296)

      Maureen Murphy-Ryan, Salman Kirmani, Dana Mara Thompson, Larry A. Binkovitz, Kristen B. Thomas and Dusica Babovic-Vuksanovic

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35497

    12. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS) (pages 2297–2301)

      Casey M. Rand, Min Yu, Lawrence J. Jennings, Kelvin Panesar, Elizabeth M. Berry-Kravis, Lili Zhou and Debra E. Weese-Mayer

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35499

    13. Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus (pages 2302–2308)

      Aia E. Jønch, Lise G. Larsen, Susanne Pouplier, Kate Nielsen, Karen Brøndum-Nielsen and Zeynep Tümer

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35505

    14. Severe lateral tibial bowing with short stature in two siblings—A provisionally novel syndrome (pages 2309–2316)

      Lia Zitano, Randall T. Loder, Mervyn D. Cohen and David D. Weaver

      Article first published online: 1 AUG 2012 | DOI: 10.1002/ajmg.a.35514

    15. 17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum (pages 2317–2321)

      Abhijit Dixit, Chirag Patel, Rachel Harrison, Joanna Jarvis, Sally Hulton, Nigel Smith, Katherine Yates, Lee Silcock, Dominic J. McMullan and Mohnish Suri

      Article first published online: 6 AUG 2012 | DOI: 10.1002/ajmg.a.35520

    16. BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1) (pages 2322–2327)

      Kamilla Schlade-Bartusiak, Lindsay Brown, Brenda Lomax, Hélène Bruyère, Tanya Gillan, Sara Hamilton, Barbara McGillivray and Patrice Eydoux

      Article first published online: 6 AUG 2012 | DOI: 10.1002/ajmg.a.35516

    17. Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome? (pages 2328–2335)

      Anna-Kaisa Niemi, Andrea Kwan, Louanne Hudgins, Athena M. Cherry and Melanie A. Manning

      Article first published online: 7 AUG 2012 | DOI: 10.1002/ajmg.a.35536

    18. Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy (pages 2336–2341)

      Michael B. Bober, Megan Taylor, Robert Heinle and William Mackenzie

      Article first published online: 7 AUG 2012 | DOI: 10.1002/ajmg.a.35530

    19. Phenotype in novel Xp duplication (pages 2342–2346)

      Manju Salaria, Trent Burgess, Stella Setyapranata and Ingrid Winship

      Article first published online: 7 AUG 2012 | DOI: 10.1002/ajmg.a.35538

    20. Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl (pages 2347–2352)

      Keisuke Enomoto, Yasuhiro Kishitani, Makiko Tominaga, Aki Ishikawa, Noritaka Furuya, Noriko Aida, Mitsuo Masuno, Ken-Ichiro Yamada and Kenji Kurosawa

      Article first published online: 7 AUG 2012 | DOI: 10.1002/ajmg.a.35542

  7. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Letters
    9. Reviewer Listing
    1. Trisomy 18: Frequency, types, and prognosis of congenital heart defects in a Brazilian cohort (pages 2358–2361)

      Rafael F.M. Rosa, Rosana C.M. Rosa, Marina B. Lorenzen, Ceres A.V. de Oliveira, Carla Graziadio, Paulo R.G. Zen and Giorgio A. Paskulin

      Article first published online: 27 JUL 2012 | DOI: 10.1002/ajmg.a.35492

    2. Pleural malignancy in a 22-year-old female with a chromosome 22q13 deletion (pages 2362–2363)

      Julie McGaughran, Mayenaaz Sidhu and Melissa Jessop

      Article first published online: 20 JUL 2012 | DOI: 10.1002/ajmg.a.35501

    3. A case of de Barsy syndrome with a severe eye phenotype (pages 2364–2366)

      Mohammed Al-Owain, Shamsa Alanazi, Ola Khalifa, Amal Al-Hemidan, Loai Al-Ebdi, Bandar Al-Saud and Fowzan S. Alkuraya

      Article first published online: 6 AUG 2012 | DOI: 10.1002/ajmg.a.35507

  8. Reviewer Listing

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

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