American Journal of Medical Genetics Part A

Cover image for Vol. 149A Issue 3

March 2009

Volume 149A, Issue 3

Pages C1–C1, fm i–fm x, 297–562

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
    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. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
    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. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
    1. You have free access to this content
  4. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
  5. Biography

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
    1. You have free access to this content
      An undifferentiated pediatrician (pages 298–300)

      Thaddeus E. Kelly

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32676

  6. Genetic Drift

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
    1. You have free access to this content
      Surf: For those who care for dying children (page 301)

      Jason Myers-Benner

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32701

  7. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
    1. Is it Williams syndrome? GTF2IRD1 implicated in visual–spatial construction and GTF2I in sociability revealed by high resolution arrays (pages 302–314)

      L. Dai, U. Bellugi, X.-N. Chen, A.M. Pulst-Korenberg, A. Järvinen-Pasley, T. Tirosh-Wagner, P.S. Eis, J. Graham, D. Mills, Y. Searcy and J.R. Korenberg

      Version of Record online: 9 FEB 2009 | DOI: 10.1002/ajmg.a.32652

    2. Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism (pages 315–321)

      Katia Sol-Church, Deborah L. Stabley, Laurie A. Demmer, Abigail Agbulos, Angela E. Lin, Leslie Smoot, Linda Nicholson and Karen W. Gripp

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32639

    3. A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism (pages 322–327)

      Tracy L. Stockley, Roberto Mendoza-Londono, Evan J. Propst, Sandi Sodhi, Lucie Dupuis and Blake C. Papsin

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32679

    4. A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder–Robinson syndrome (pages 328–335)

      L.E. Becerra-Solano, J. Butler, G. Castañeda-Cisneros, D.E. McCloskey, X. Wang, A.E. Pegg, C.E. Schwartz, J. Sánchez-Corona and J.E. García-Ortiz

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32641

    5. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23 (pages 336–342)

      Haruka Hamanoue, Andre Megarbane, Takaya Tohma, Akira Nishimura, Takeshi Mizuguchi, Hirotomo Saitsu, Haruya Sakai, Shoko Miura, Tatsushi Toda, Noriko Miyake, Norio Niikawa, Koichiro Yoshiura, Fumiki Hirahara and Naomichi Matsumoto

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32656

    6. Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions (pages 343–348)

      Cristina Camprubí, Miriam Guitart, Elisabeth Gabau, Maria Dolors Coll, Sergi Villatoro, Silvestre Oltra, Monica Roselló, Irene Ferrer, Sandra Monfort, Carmen Orellana and Francisco Martínez

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32659

    7. Genetic assessment of breast cancer risk in primary care practice (pages 349–356)

      Wylie Burke, Julie Culver, Linda Pinsky, Sarah Hall, Susan E. Reynolds, Yutaka Yasui and Nancy Press

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32643

    8. Family letters are an effective way to inform relatives about inherited cardiac disease (pages 357–363)

      Wilma P. van der Roest, José M. Pennings, Marian Bakker, Maarten P. van den Berg and J. Peter van Tintelen

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32672

    9. Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients (pages 372–379)

      Jia-Chi Wang, Linda Dang, Brenda Lomax, Lesley Turner, Mary Shago, Ahmad S. Teebi, Regan Klatt, Patrick M. MacLeod, Siu-Li Yong, Malgorzata J.M. Nowaczyk and Patrice Eydoux

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32675

    10. A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population (pages 380–386)

      Miriam Entesarian, Birgit Carlsson, Mahmoud Reza Mansouri, Eva-Lena Stattin, Eva Holmberg, Irina Golovleva, Hreinn Stefansson, Joakim Klar and Niklas Dahl

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32663

    11. Neuropsychological attention deficits in tuberous sclerosis complex (TSC) (pages 387–395)

      Petrus J. de Vries, Julian Gardiner and Patrick F. Bolton

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32690

    12. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies (pages 396–402)

      Daniel R. Jensen, Donna M. Martin, Stephen Gebarski, Trilochan Sahoo, Ellen K. Brundage, A. Craig Chinault, Edgar A. Otto, Moumita Chaki, Friedhelm Hildebrandt, Sau Wai Cheung and Marci M. Lesperance

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32691

    13. Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy (pages 408–414)

      Catherine E. Cottrell, Annemarie Sommer, Gail D. Wenger, Steven Bullard, Tamara Busch, Katherine Nash Krahn, Andrew C. Lidral and Julie M. Gastier-Foster

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32699

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
  9. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
    1. Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature (pages 417–426)

      L. Garavelli, M. Zollino, P. Cerruti Mainardi, F. Gurrieri, F. Rivieri, F. Soli, R. Verri, E. Albertini, E. Favaron, M. Zignani, D. Orteschi, P. Bianchi, F. Faravelli, F. Forzano, M. Seri, A. Wischmeijer, D. Turchetti, E. Pompilii, M. Gnoli, G. Cocchi, L. Mazzanti, R. Bergamaschi, D. De Brasi, M.P. Sperandeo, F. Mari, V. Uliana, R. Mostardini, M. Cecconi, M Grasso, S. Sassi, G. Sebastio, A. Renieri, M. Silengo, S. Bernasconi, N. Wakamatsu and G. Neri

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32693

    2. A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child (pages 427–430)

      Mustafa Tekin, Aslı Sırmacı, Berrin Yüksel-Konuk, Suat Fitoz and Levent Sennaroğlu

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32619

    3. Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation (pages 431–436)

      C.P. Barnett, R. Mendoza-Londono, S. Blaser, J. Gillis, L. Dupuis, A.V. Levin, P.W. Chiang, E. Spector and W. Reardon

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32657

    4. Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model (pages 437–445)

      Sandrine Leclercq, Kim Maincent, Françoise Baverel, Dominique Le Tessier, Franck Letourneur, Aziza Lebbar and Jean-Michel Dupont

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32640

    5. The clinical spectrum of fetal Niemann–Pick type C (pages 446–450)

      Ronen Spiegel, Annick Raas-Rothschild, Orit Reish, Miriam Regev, Vardiella Meiner, Ruth Bargal, Vivi Sury, Karen Meir, Michel Nadjari, Gratiana Hermann, Theodor C. Iancu, Stavit A. Shalev and Marsha Zeigler

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32642

    6. Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities (pages 451–455)

      Maila Penttinen, Hannele Koillinen, Harri Niinikoski, Outi Mäkitie and Marja Hietala

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32644

    7. Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications (pages 456–460)

      Nomazulu Dlamini, Miranda Splitt, Anne Durkan, Ata Siddiqui, Soundrie Padayachee, Sue Hobbins, Frank Rutsch and Elizabeth Wraige

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32646

    8. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism (pages 466–469)

      William S. Oetting, Jacy Pietsch, Marcia J. Brott, Sarah Savage, James P. Fryer, C. Gail Summers and Richard A. King

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32654

    9. Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association (pages 470–474)

      Ali Al Kaissi, Farid Ben Chehida, Maher Ben Ghachem, Franz Grill and Klaus Klaushofer

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32660

    10. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication (pages 475–481)

      A.L. Mosca, P. Callier, L. Faivre, N. Marle, N. Mejean, C. Thauvin-Robinet, A. Masurel-Paulet, N. Madinier, C. Durand, G. Couillaud, S. Ragot, F. Huet, J.R. Teyssier and F. Mugneret

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32665

    11. Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5 (pages 482–486)

      Marco Castori, Rosanna Rinaldi, Luana Barboni, Paolo Tanzilli, Michael Bamshad and Paola Grammatico

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32668

    12. A premature infant with Costello syndrome due to a rare G13C HRAS mutation (pages 487–489)

      Maria Piccione, Ettore Piro, Maria Grazia Pomponi, Federico Matina, Roberta Pietrobono, Eva Candela, Bruna Gabriele, Giovanni Neri and Giovanni Corsello

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32674

    13. Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability (pages 490–495)

      C. Tyson, A.J. Dawson, S. Bal, M. Tomiuk, T. Anderson, D. Tucker, D. Riordan, I. Chudoba, B. Morash, A. Mhanni, A.E. Chudley, B. McGillivray, M. Parslow, G. Rappold, R. Roeth, C. Fawcett, Y. Qiao, C. Harvard and E. Rajcan-Separovic

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32535

    14. Case report: Adult phenotype of Mulvihill–Smith syndrome (pages 496–500)

      Tatsuhiko Yagihashi, Motoichiro Kato, Kosuke Izumi, Rika Kosaki, Kaori Yago, Kazuo Tsubota, Yuji Sato, Minoru Okubo, Goro Watanabe, Takao Takahashi and Kenjiro Kosaki

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32551

    15. Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: Report of a third family and review (pages 501–504)

      Abdulgani Tatar, Zeynep Ocak, Arzu Tatar, Ahmet Yesilyurt, Bunyamin Borekci and Sitki Oztas

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32645

    16. Pallister–Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p (pages 505–509)

      Alison Yeung, David Francis, Olivia Giouzeppos and David J. Amor

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32664

    17. Pallister–Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p (pages 510–514)

      Ida Vogel, Troels Lyngbye, Alice Nielsen, Søren Pedersen and Jens Michael Hertz

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32681

    18. Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies (pages 515–518)

      Shay Ben-Shachar, Bhattacharjee M. Bidwa, Lorraine Potocki and Seema R. Lalani

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32667

  10. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Biography
    7. Genetic Drift
    8. Research Articles
    9. Research Letters
    10. Clinical Reports
    11. Research Letters
    1. Cerebro-oculo-nasal syndrome: Report of a case with a severe phenotype (pages 519–520)

      Nancy Mizue Kokitsu-Nakata, Siulan Vendramini Paulovich Pittoli and Antonio Richieri da Costa

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32588

    2. A susceptibility locus on 1p32–1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation (pages 521–524)

      Zhipeng Fan, Juan Du, Huimin Liu, Honglai Zhang, Andrzej A Dlugosz, Cun-Yu Wang, Ming Fan, Yan Shen and Songlin Wang

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32647

    3. The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome (pages 525–528)

      Christina Zaleski, Anne S. Bassett, Karen Tam, Andrea L. Shugar, Eva W.C. Chow and Elizabeth McPherson

      Version of Record online: 10 FEB 2009 | DOI: 10.1002/ajmg.a.32650

    4. Array comparative genomic hybridization analysis of heritable Xp deletion (pages 529–531)

      Radhika Purushothaman, Sreenivas Dutt Gunturu, Henry Anhalt, Svetlana Ten, Andrew Friedman, Alexander Pearlman and Harry Ostrer

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32658

    5. Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity (pages 532–534)

      D.R. Bertola, R. Antequera, M.J. Rodovalho, R.S. Honjo, L.M.J. Albano, I.M. Furquim, L.A. Oliveira and C.A. Kim

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32661

    6. Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1 (pages 535–538)

      Kara Goodin, Sandra Prucka, Audie L. Woolley, Juergen Kohlhase, Richard J.H. Smith, John Grant and Nathaniel H. Robin

      Version of Record online: 11 FEB 2009 | DOI: 10.1002/ajmg.a.32673

    7. Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML) (pages 543–545)

      Paolo Prontera, Gabriela Stangoni, Iris Manes, Amedea Mencarelli and Emilio Donti

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32692

    8. Phenocopy of Wolf–Hirschhorn syndrome in a patient with duplication 12q13.3q14.1 (pages 546–548)

      Bruno Dallapiccola, Laura Bernardini, Antonio Novelli and Rita Mingarelli

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32695

    9. Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel–Lindau syndrome (pages 549–551)

      James C. Barton, Edison Goncalves, Avni Santani, Balasundaram Chandra-Sekar, E. Carter Morris, Britton B. Carter and Catherine A. Stolle

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32698

    10. A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family (pages 555–558)

      A. Eliot Shearer, Michael S. Hildebrand, Catherine J. Bromhead, Kimia Kahrizi, Jennifer A. Webster, Batool Azadeh, William J. Kimberling, Ali Anousheh, Arash Nazeri, Dietrich Stephan, Hossein Najmabadi, Richard J.H. Smith and Melanie Bahlo

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32670

    11. Is this the Coffin–Siris syndrome or the BOD syndrome? (pages 559–562)

      Ariel Brautbar, Judith Ragsdale and Marwan Shinawi

      Version of Record online: 12 FEB 2009 | DOI: 10.1002/ajmg.a.32671

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