American Journal of Medical Genetics Part A

Cover image for Vol. 149A Issue 10

October 2009

Volume 149A, Issue 10

Pages C1–C1, fm i–fm x, 2075–2359

  1. Cover Image

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    1. You have free access to this content
      A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome (pages 2075–2079)

      Elizabeth Forsythe, Ruth Wild, Gabrielle Sellick, Richard S. Houlston, Alan R. Lehmann and Emma Wakeling

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.32995

  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    1. Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects (pages 2080–2087)

      Ana Paula Carneiro Brandalize, Eliane Bandinelli, Pollyanna Almeida dos Santos, Israel Roisenberg and Lavínia Schüler-Faccini

      Article first published online: 1 SEP 2009 | DOI: 10.1002/ajmg.a.32989

    2. Maternal medication use, carriership of the ABCB1 3435C > T polymorphism and the risk of a child with cleft lip with or without cleft palate (pages 2088–2092)

      Bart J.B. Bliek, Ron H.N. van Schaik, Ilse P. van der Heiden, Fakhredin A. Sayed-Tabatabaei, Cock M. van Duijn, Eric A.P. Steegers, Régine P.M. Steegers-Theunissen and the Eurocran Gene–Environment Interaction Group

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33036

    3. Microarray based analysis of 3p25-p26 deletions (3p- syndrome) (pages 2099–2105)

      Salwati Shuib, Dominic McMullan, Eleanor Rattenberry, Richard M. Barber, Fatimah Rahman, Malgosia Zatyka, Cyril Chapman, Fiona Macdonald, Farida Latif, Val Davison and Eamonn R. Maher

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.32824

    4. Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization (pages 2106–2112)

      Maja Hempel, Nuria Rivera Brugués, Janine Wagenstaller, Gaby Lederer, Andrea Weitensteiner, Heide Seidel, Thomas Meitinger and Tim M. Strom

      Article first published online: 12 AUG 2009 | DOI: 10.1002/ajmg.a.33042

    5. A genome-wide screen for copy number alterations in Aicardi syndrome (pages 2113–2121)

      Xiaoling Wang, V. Reid Sutton, Tanya N. Eble, Richard Alan Lewis, Preethi Gunaratne, Ankita Patel and Ignatia B. Van den Veyver

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.32976

    6. Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome (pages 2122–2128)

      John M. Graham Jr, Nancy Kramer, Bassem A. Bejjani, Christian T. Thiel, Claudio Carta, Giovanni Neri, Marco Tartaglia and Martin Zenker

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.32992

    7. Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies (pages 2141–2146)

      C. Stoetzel, S. Riehm, V. Bennouna Greene, V. Pelletier, J. Vigneron, B. Leheup, V. Marion, S. Hellé, J.M. Danse, C. Thibault, L. Moulinier, F. Veillon and H. Dollfus

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33015

    8. Genotype–phenotype correlations in VHL exon deletions (pages 2147–2151)

      Alisdair McNeill, Eleanor Rattenberry, Richard Barber, Pip Killick, Fiona MacDonald and Eamonn R. Maher

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33023

    9. Severe neonatal spondylometaphyseal dysplasia in two siblings (pages 2166–2172)

      Malwina Czarny-Ratajczak, Krystyna Chrzanowska, Tadeusz Bieganski, Jerzy Sulko, Dobromila Baranska, Beata Kocyla-Karczmarewicz, Lukasz Kuszel, Lucjusz Jakubowski, Kryspin Niedzielski and Kazimierz Kozlowski

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33016

    10. Expanding CEP290 mutational spectrum in ciliopathies (pages 2173–2180)

      Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, Jean-Michel Rozet, Dominika Swistun, Jerlyn Tolentino, The International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson and Enza Maria Valente

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33025

  6. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    1. You have free access to this content
      Fontaine–Farriaux syndrome: A recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies (pages 2193–2199)

      Marco Castori, Evelina Silvestri, Lucia Pedace, Giuseppina Marseglia, Alessia Tempera, Ivana Antigoni, Francesca Torricelli, Silvia Majore and Paola Grammatico

      Article first published online: 3 SEP 2009 | DOI: 10.1002/ajmg.a.32763

    2. Petty–Laxova–Wiedemann progeroid syndrome: Further phenotypical delineation and confirmation of a rare syndrome of premature aging (pages 2200–2205)

      Wilmer Noé Delgado-Luengo, Elizabeth M. Petty, Ernesto Solís-Añez, Orlando Römel, Juana Delgado-Luengo, María Luisa Hernández, Alisandra Morales-Machín, Lisbeth Borjas-Fuentes, William Zabala-Fernández, Sandra González-Ferrer, Lennie Pineda-Bernal, Tatiana Pardo-Govea, María Caridad Martínez-Basalo, Richard González, Karelis Urdaneta, Jenny Cañizales and Herminia Fleitas-Cabello

      Article first published online: 1 SEP 2009 | DOI: 10.1002/ajmg.a.32884

    3. Cranioectodermal dysplasia: A probable ciliopathy (pages 2206–2211)

      Anastasia E. Konstantinidou, Helen Fryssira, Stavros Sifakis, Charalampos Karadimas, Petros Kaminopetros, Georgios Agrogiannis, Stylianos Velonis, Peter G.J. Nikkels and Efstratios Patsouris

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33013

    4. Connective tissue involvement in two patients with features of cranioectodermal dysplasia (pages 2212–2215)

      Andrew E. Fry, Claus Klingenberg, Jean Matthes, Ketil Heimdal, Raoul C.M. Hennekam and Daniela T. Pilz

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33027

    5. Phenotype–genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes (pages 2216–2219)

      Sa Tang, Hiroshi Hoshida, Mitsuhiro Kamisago, Hisato Yagi, Kazuo Momma and Rumiko Matsuoka

      Article first published online: 1 SEP 2009 | DOI: 10.1002/ajmg.a.32735

    6. Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow-up study documents progressive clinical course (pages 2220–2225)

      Bertrand Isidor, Antoine Hamel, Frank Plasschaert, Lieve Claus, Jacques-Marie Mercier, Geert R. Mortier, Jules G. Leroy, Alain Verloes and Albert David

      Article first published online: 1 SEP 2009 | DOI: 10.1002/ajmg.a.32926

    7. Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: Detection by MLPA and breakpoint mapping by SNP array analysis (pages 2226–2230)

      Servi J.C. Stevens, Eric E.J.G.L. Smeets, Eveline Blom, Chris M.J. van Uum, Jozefa C.M. Albrechts, Jos Herbergs, Jannie W.M. Janssen and John J.M. Engelen

      Article first published online: 1 SEP 2009 | DOI: 10.1002/ajmg.a.32967

    8. Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease (pages 2231–2235)

      Frederik J. Hes, Kamlesh Madan, I. Shan Rombout-Liem, Karoly Szuhai, Helena Sørensen, Hans Kristian Ploos van Amstel, Egbert Bakker, Theo J. Visser, Johannes W. Smit and Kerstin Hansson

      Article first published online: 1 SEP 2009 | DOI: 10.1002/ajmg.a.33004

    9. You have free access to this content
      Case report supporting that the Barber–Say and ablepharon macrostomia syndromes could represent one disorder (pages 2236–2240)

      Jennifer Haensel, Nicolai Kohlschmidt, Susanne Pitz, Annerose Keilmann, Martin Zenker, Reinhard Ullmann, Thomas Haaf and Oliver Bartsch

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.32993

    10. Vitamin A deficiency in an infant with PAGOD syndrome (pages 2241–2247)

      Ralitza Gavrilova, Nikola Babovic, Aida Lteif, Benjamin Eidem, Salman Kirmani, Timothy Olson and Dusica Babovic-Vuksanovic

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.32998

    11. Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members (pages 2248–2253)

      Bhavana J. Dave, Ann Haskins Olney, Dianna H. Zaleski, Diane L. Pickering, Troy A. Becker, Hope E. Chipman and Warren G. Sanger

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.32999

    12. Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment (pages 2254–2257)

      Christine M. Armour, Peter Humphreys, Raoul C.M. Hennekam and Kym M. Boycott

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33003

    13. Mandibuloacral dysplasia type A in childhood (pages 2258–2264)

      L. Garavelli, M.R. D'Apice, F. Rivieri, M. Bertoli, A. Wischmeijer, C. Gelmini, V. De Nigris, E. Albertini, S. Rosato, R. Virdis, E. Bacchini, R. Dal Zotto, G. Banchini, L. Iughetti, S. Bernasconi, A. Superti-Furga and G. Novelli

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33005

    14. Floating–Harbor syndrome and intramedullary spinal cord ganglioglioma: Case report and observations from the literature (pages 2265–2269)

      Rachel A. Nelson, Michelle McNamara, William Ellis, Rebecca Stein-Wexler, Billur Moghaddam and Theodore Zwerdling

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33014

    15. Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia (pages 2270–2273)

      Carmelo Damiano Salpietro, Silvana Briuglia, Maria Concetta Cutrupi, Romina Gallizzi, Luciana Rigoli and Bruno Dallapiccola

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33017

    16. 4.3-Mb triplication of 4q32.1–q32.2: Report of a family through two generations (pages 2274–2279)

      Jia-Chi Wang, Thomas Fisker, Linda Dang, Ikuko Teshima and Małgorzata J.M. Nowaczyk

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33020

    17. Czech dysplasia occurring in a Japanese family (pages 2285–2289)

      Yoshito Matsui, Toshimi Michigami, Kanako Tachikawa, Miwa Yamazaki, Hidehiko Kawabata and Gen Nishimura

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33010

  7. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    1. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV (pages 2296–2302)

      Antonio Viñuela, Matías Morín, Manuela Villamar, Constantino Morera, M. José Lavilla, Laura Cavallé, Miguel A. Moreno-Pelayo, Felipe Moreno and Ignacio del Castillo

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33026

    2. Syngnathism in an infant born to consanguineous parents (pages 2303–2305)

      Dina Villanueva-García, Georgette Contreras-Masse, Mónica Villa-Guillén, Guillermo Ramón-García and Teresa Murguía-De Sierra

      Article first published online: 1 SEP 2009 | DOI: 10.1002/ajmg.a.32734

    3. Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms (pages 2306–2310)

      Danuta Z. Loesch, David E. Godler, Mahmoud Khaniani, Emma Gould, Freya Gehling, Cheryl Dissanayake, Trent Burgess, Flora Tassone, Richard Huggins, Howard Slater and KH Andy Choo

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.32990

    4. Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers–Danlos syndrome (pages 2311–2316)

      N.C. Voermans, C.G. Bönnemann, M. Lammens, B.G. van Engelen and B.C.J. Hamel

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.32997

    5. Partial ATRX gene duplication causes ATR-X syndrome (pages 2317–2320)

      Dianne M. Cohn, Roberta A. Pagon, Louanne Hudgins, Charles E. Schwartz, Roger E. Stevenson and Michael J. Friez

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33006

    6. Interstitial deletion 2p11.2–p12: Further delineation (pages 2324–2326)

      Karin Writzl, Luca Lovrečić and Borut Peterlin

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33064

  8. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    1. You have free access to this content
      Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options (pages 2327–2338)

      Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, David H. Viskochil, Janet M. Hock, Elizabeth K. Schorry, Alvin H. Crawford, Jan M. Friedman, David Little, Juha Peltonen, John C. Carey, David Feldman, Xijie Yu, Linlea Armstrong, Patricia Birch, David L. Kendler, Stefan Mundlos, Feng-Chun Yang, Gina Agiostratidou, Kim Hunter-Schaedle and David A. Stevenson

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33045

    2. Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes (pages 2339–2345)

      Daria Riva, Chiara Vago, Chiara Pantaleoni, Sara Bulgheroni, Massimo Mantegazza and Silvana Franceschetti

      Article first published online: 16 SEP 2009 | DOI: 10.1002/ajmg.a.33029

  9. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    1. Book review (page 2359)

      F. Clarke Fraser

      Article first published online: 1 SEP 2009 | DOI: 10.1002/ajmg.a.33028

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