American Journal of Medical Genetics Part A

Copyright © 2013 Wiley Periodicals Inc.

Cover image for Vol. 161 Issue 6

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

Edited By: John C. Carey

Impact Factor: 2.391

ISI Journal Citation Reports © Ranking: 2011: 90/157 (Genetics & Heredity)

Online ISSN: 1552-4833

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

  1. Research Articles

    1. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

      Alex R. Paciorkowski, Kim Keppler-Noreuil, Luther Robinson, Christopher Sullivan, Samin Sajan, Susan L. Christian, Polina Bukshpun, Stacy B. Gabriel, Joseph G. Gleeson, Elliott H. Sherr and William B. Dobyns

      Article first published online: 23 MAY 2013 | DOI: 10.1002/ajmg.a.35969

    2. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

      Yukiko Kondo, Eriko Koshimizu, Andre Megarbane, Haruka Hamanoue, Ippei Okada, Kiyomi Nishiyama, Hirofumi Kodera, Satoko Miyatake, Yoshinori Tsurusaki, Mitsuko Nakashima, Hiroshi Doi, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto

      Article first published online: 23 MAY 2013 | DOI: 10.1002/ajmg.a.35983

    3. Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of RAI1

      Melanie Lacaria, Wenli Gu and James R Lupski

      Article first published online: 23 MAY 2013 | DOI: 10.1002/ajmg.a.35941

  2. Clinical Reports

    1. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients

      Shino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, Keisuke Yoshii, Yumi Tani, Midori Sugawara, Keiko Shimojima, Makiko Osawa and Toshiyuki Yamamoto

      Article first published online: 23 MAY 2013 | DOI: 10.1002/ajmg.a.35975

    2. Two is better than one: A case of homozygous myotonic dystrophy type 1

      Jillian M. Carroll, Kimberly A. Quaid, Kristyne Stone, Renee Jones, Frank Schubert and Christopher B. Griffith

      Article first published online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.35967

  3. Research Reviews

    1. Chimerism in monochorionic dizygotic twins: Case study and review

      Kristen Chen, Ramen H. Chmait, Douglas Vanderbilt, Samuel Wu and Linda Randolph

      Article first published online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.35957

  4. Research Articles

    1. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

      Magali Avila, Maria Kirchhoff, Nathalie Marle, Hanna D. Hove, Mondher Chouchane, Christel Thauvin-Robinet, Alice Masurel, Anne-Laure Mosca-Boidron, Patrick Callier, Francine Mugneret, Susanne Kjaergaard and Laurence Faivre

      Article first published online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.35970

    2. Cardiac fat-containing lesions are common in tuberous sclerosis complex

      Elias A. Shaaya, Jacqueline S. Hirshberg, Olivia T. Rabe, Ronald L. Thibert, Ignacio Inglessis, Amita Sharma and Elizabeth A. Thiele

      Article first published online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.36037

  5. Clinical Reports

    1. Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

      Elisabeth A. Keitges, Romela Pasion, Rachel D. Burnside, Carla Mason, Antonio Gonzalez-Ruiz, Teresa Dunn, Meredith Masiello, Joseph A. Gebbia, Carlos O. Fernandez and Hiba Risheg

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35965

  6. Research Letter

    1. Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability

      Kristina Orendi, Sabine Uhrig, Monika Mach, Petra Tschepper and Michael R. Speicher

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35986

  7. Research Articles

    1. Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

      Christopher A. Chapleau, Jane Lane, Susan M. Kirwin, Carolyn Schanen, Kathy M.B. Vinette, Danielle Stubbolo, Patrick MacLeod and Alan K. Percy

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35979

  8. Research Review

    1. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

      Andrea Van Lierde, Francesca Menni, Maria Francesca Bedeschi, Federica Natacci, Sophie Guez, Paola Vizziello, Maria Antonella Costantino, Faustina Lalatta and Susanna Esposito

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35982

  9. Correspondences

    1. Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures

      Milena Mariani, Laura R. Bettini, Anna Cereda, Silvia Maitz, Cristina Gervasini, Silvia Russo, Maura Masciadri, Andrea Biondi, Lidia Larizza and Angelo Selicorni

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35988

  10. Research Articles

    1. Growth hormone receptor (GHR) gene polymorphism and prader–willi syndrome

      Merlin G. Butler, Jennifer Roberts, Jena Hayes, Xiaoyu Tan and Ann M. Manzardo

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35980

  11. Clinical Reports

    1. Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions (page 000)

      Eric T. Rush, Jadd M. Stevens, Warren G. Sanger and Ann H. Olney

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35951

    2. First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities

      Peter H. Bui, Naghmeh Dorrani, Derek Wong, Gregory Perens, Katrina M. Dipple and Fabiola Quintero-Rivera

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35974

    3. Two cases of hepatic adenomas in patients with wolf-hirschhorn syndrome: A new rare complication?

      Giulia Prunotto, Paola Cianci, Anna Cereda, Agnese Scatigno, Chiara Fossati, Silvia Maitz, Andrea Biondi and Angelo Selicorni

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35966

    4. Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly

      Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Elisa Guareschi, Caterina Longo, Giuseppe Albertini, Chiara Gelmini, Chiara Greco, Stefania Errico, Gustavo Savino, Marco Pavanello, Rudolf Happle, Sheila Unger, Andrea Superti-Furga and Karl-Heinz Grzeschik

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35964

  12. Research Articles

    1. “If it helps …” the use of microarray technology in prenatal testing: Patient and partners reflections

      Sarah C. Hillman, John Skelton, Elizabeth Quinlan-Jones, Amie Wilson and Mark D. Kilby

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35981

    2. Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the united kingdom

      Melissa Hill, Madhavi Karunaratna, Celine Lewis, Frida Forya and Lyn Chitty

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35972

    3. The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients' perspective

      Klaartje van Engelen, Marieke J.H. Baars, Joyce P. Felix, Alex V. Postma, Barbara J.M. Mulder and Ellen M.A. Smets

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35973

    4. Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis

      Daniela Alves, Mafalda Sampaio, Rita Figueiredo and Miguel Leão

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35968

  13. Correspondences

    1. Response to “germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures” by mariani et al.

      Thomas P. Slavin and Ian Krantz

      Article first published online: 21 MAY 2013 | DOI: 10.1002/ajmg.a.35987

  14. Clinical Reports

    1. Severe Obstructive Sleep Apnea in Loeys–Dietz Syndrome Successfully Treated Using Continuous Positive Airway Pressure

      Toshiki Takenouchi, Hideyuki Saito, Ryo Maruoka, Naoki Oishi, Chiharu Torii, Jun Maeda, Takao Takahashi and Kenjiro Kosaki

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35953

  15. Research Articles

    1. Characterization of X-linked Hypohidrotic Ectodermal Dysplasia (XL-HED) Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging

      Kyle B. Jones, Alice F. Goodwin, Maya Landan, Kerstin Seidel, Dong-Kha Tran, Jacob Hogue, Miquella Chavez, Mary Fete, Wenli Yu, Tarek Hussein, Ramsey Johnson, Kenneth Huttner, Andrew H. Jheon and Ophir D. Klein

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35959

    2. Genetic Heterogeneity in Type III Familial Cutaneous Syndactyly and Linkage to Chromosome 7q36 (page 000)

      Mohammad M. Al-Qattan, Hanan E. Shamseldin, Mohammed Al Mazyad, Saud Al Deghaither and Fowzan S. Alkuraya

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35956

  16. Clinical Reports

    1. Mosaic Isochromosome 15q and Maternal Uniparental Isodisomy for Chromosome 15 in a Patient With Morbid Obesity and Variant PWS-Like Phenotype (page 000)

      Jia-Chi Wang, Mary Vaccarello-Cruz, Leslie Ross, Renius Owen, Victoria M. Pratt, Katherine Lightman, Yan Liu, Katayoun Hafezi, Dhia Cherif and Dr. Trilochan Sahoo

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35939

    2. Recurrence of Urorectal Septum Malformation Sequence Spectrum Anomalies in Siblings: Time to Explore the Genetics

      Shagun Aggarwal and Shubha R. Phadke

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35950

  17. Research Articles

    1. Descriptive Epidemiology of Idiopathic Clubfoot (page 000)

      Martha M. Werler, Mahsa M. Yazdy, Allen A. Mitchell, Robert E. Meyer, Charlotte M. Druschel, Marlene Anderka, James R. Kasser and Susan T. Mahan

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35955

  18. Clinical Reports

    1. De Novo Trisomy 12p in Twin Girls With Different Levels of Mosaicism

      Eileen C.P. Lim, Ivy S.L. Ng, Min-Hwee Yong, Hui-Yi Yon, Maggie S.Y. Brett and Ene-Choo Tan

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35943

    2. Progressive Extreme Heterotopic Calcification (page 000)

      Margherita Silengo, Claudio Defilippi, Elga Belligni, Elisa Biamino, Elisabetta Flex, Alfredo Brusco, Giovanni Battista Ferrero, Marco Tartaglia and Raoul C. Hennekam

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35944

    3. Familial Trisomy 6p in Mother and Daughter (page 000)

      Marco Savarese, Anna Grandone, Lucia Perone, Francesca Del Vecchio Blanco, Giuseppina De Luca, Giuseppina Di Fruscio, Giuseppina Fogu, Giulio Piluso, Laura Perrone, Emanuele Miraglia del Giudice and Vincenzo Nigro

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35928

    4. XY Sex Reversal, Pontocerebellar Hypoplasia and Intellectual Disability: Confirmation of a New Syndrome (page 000)

      Komudi Siriwardena, Almundher Al-Maawali, Andrea Guerin, Susan Blaser and David Chitayat

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35945

    5. 6p21.3 Microdeletion Involving the SYNGAP1 Gene in a Patient With Intellectual Disability, Seizures, and Severe Speech Impairment (page 000)

      Karin Writzl and Alida C. Knegt

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35930

    6. Renal-Hepatic-Pancreatic Dysplasia: A Sibship With Skeletal and Central Nervous System Anomalies and NPHP3 Mutation (page 000)

      Lawrence Copelovitch, Maureen M. O'Brien, Marta Guttenberg, Edgar A. Otto and Bernard S. Kaplan

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35958

  19. Research Articles

    1. Mortality of Congenital Osteochondrodysplasias: A Nationwide Registry-Based Study (page 000)

      Antonio Morales-Piga, Verónica Alonso-Ferreira, Ana Villaverde-Hueso, Manuel Posada de la Paz and Gonzalo López-Abente

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35929

  20. Clinical Reports

    1. A Novel RASA1 Mutation Causing Capillary Malformation–Arteriovenous Malformation (CM–AVM) Presenting During Pregnancy (page 000)

      Hannah J. Durrington, Helen V. Firth, Charlotte Patient, Mark Belham, David Jayne, Nigel Burrows, Nicholas W. Morrell and Edwin R. Chilvers

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35935

    2. 6p25 Microdeletion: White Matter Abnormalities in an Adult Patient (page 000)

      Hilary J. Vernon, Aida Bytyci Telegrafi, Denise Batista, Margaret Owegi and Richard Leigh

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35937

    3. Gorlin–Chaudhry–Moss Syndrome Revisited: Expanding the Phenotype

      Rasim O. Rosti, Kadri Karaer, Birsen Karaman, Deniz Torun, Sefik Guran and Muhterem Bahce

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35954

    4. Deletions of 16p11.2 and 19p13.2 in a Family With Intellectual Disability and Generalized Epilepsy (page 000)

      Alexander G. Bassuk, Eileen Geraghty, Shu Wu, Saul A. Mullen, Samuel F. Berkovic, Ingrid E. Scheffer and Heather C. Mefford

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35946

  21. Research Letters

    1. Daytime Somnolence in an Adult With Smith–Magenis Syndrome (page 000)

      Toshiki Takenouchi, Hideyuki Saito, Naoki Oishi, Hiroyuki Fukushima, Rika Kosaki, Chiharu Torii, Takao Takahashi and Kosaki Kenjiro

      Article first published online: 17 MAY 2013 | DOI: 10.1002/ajmg.a.35936

  22. Research Articles

    1. LMNA-Associated Cardiocutaneous Progeria: An Inherited Autosomal Dominant Premature Aging Syndrome With Late Onset

      Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

      Article first published online: 10 MAY 2013 | DOI: 10.1002/ajmg.a.35971

  23. Research Letters

    1. Expanding the Phenotype Associated With Missense Mutations of the ARX Gene

      Agnieszka Charzewska, Magdalena Nawara, Anna Jakubiuk-Tomaszuk, Ewa Obersztyn, Dorota Hoffman-Zacharska, Ewelina Elert, Marta Jurek, Magdalena Bartnik, Jarosław Poznański and Jerzy Bal

      Article first published online: 8 MAY 2013 | DOI: 10.1002/ajmg.a.36003

  24. Research Articles

    1. Delineation of a Region Responsible for Panhypopituitarism in 20p11.2

      Manal Dayem-Quere, Fabienne Giuliano, Kathy Wagner-Mahler, Christophe Massol, Letizia Crouzet-Ozenda, Jean-Claude Lambert and Houda Karmous-Benailly

      Article first published online: 8 MAY 2013 | DOI: 10.1002/ajmg.a.35921

  25. Research Reviews

    1. Development of the Human Heart (page 000)

      Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35896

  26. Correspondences

    1. Nomenclature in Macrocephaly–Capillary Malformation Syndrome

      Christy Collins

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35868

  27. Research Articles

    1. Development of the Human Aortic Arch System Captured in an Interactive Three-Dimensional Reference Model

      M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35881

  28. Clinical Reports

    1. Oculo-Auriculo-Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement

      Erin E. Torti, Stephen R. Braddock, Kristen Bernreuter and Jacqueline R. Batanian

      Article first published online: 29 MAR 2013 | DOI: 10.1002/j.1552-4833.2013.35918.x

  29. Conference Reports

    1. The Society of Craniofacial Genetics and Developmental Biology 34th Annual Meeting

      Dwight R. Cordero

      Article first published online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35283

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