Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 5

Results: 51

Table of Contents, Volume 158A, Number 5, May 2012.

Published in:: 2012
Publication type:: Other

Editorial comment: New diagnostic criteria for Marfan syndrome.

Published in:

2012

By:

Hennekam, Raoul C.M.

Publication type:

Editorial

Spending on genetic tests grows.

Published in:: 2012
Publication type:: Other

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1229, doi. 10.1002/ajmg.a.35302

By:

Loucks, Catrina;
Parboosingh, Jillian S.;
Chong, Jessica X.;
Ober, Carole;
Siu, Victoria M.;
Hegele, Robert A.;
Rupar, C. Anthony;
McLeod, D. Ross;
Pinto, Alfredo;
Chudley, Albert E.;
Innes, A. Micheil

Publication type:

Article

Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1124, doi. 10.1002/ajmg.a.35313

By:

Zhu, Huiping;
Yang, Wei;
Lu, Wei;
Etheredge, Analee J.;
Lammer, Edward J.;
Finnell, Richard H.;
Carmichael, Suzan L.;
Shaw, Gary M.

Publication type:

Article

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1077, doi. 10.1002/ajmg.a.35290

By:

Quaio, Caio R.D.C.;
Carvalho, Jozélio F.;
da Silva, Clovis A.;
Bueno, Cleonice;
Brasil, Amanda S.;
Pereira, Alexandre C.;
Jorge, Alexander A.L.;
Malaquias, Alexsandra C.;
Kim, Chong A.;
Bertola, Débora R.

Publication type:

Article

Consanguinity and the risk of congenital heart disease.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1236, doi. 10.1002/ajmg.a.35272

By:

Shieh, Joseph T.C.;
Bittles, Alan H.;
Hudgins, Louanne

Publication type:

Article

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1095, doi. 10.1002/ajmg.a.35294

By:

Gripp, Karen W.;
Hopkins, Elizabeth;
Serrano, Alvaro;
Leonard, Norma J.;
Stabley, Deborah L.;
Sol-Church, Katia

Publication type:

Article

COL1A1 association and otosclerosis: A meta-analysis.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1066, doi. 10.1002/ajmg.a.35276

By:

Schrauwen, Isabelle;
Khalfallah, Ayda;
Ealy, Megan;
Fransen, Erik;
Claes, Charlotte;
Huber, Alex;
Murillo, Laura Rodriguez;
Masmoudi, Saber;
Smith, Richard J.H.;
Van Camp, Guy

Publication type:

Article

Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1244, doi. 10.1002/ajmg.a.35207

By:

Pineda-Alvarez, Daniel E.;
Solomon, Benjamin D.;
Roessler, Erich;
Balog, Joan Z.;
Hadley, Donald W.;
Zein, Wadih M.;
Brooks, Brian P.;
Muenke, Maximilian

Publication type:

Article

12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1071, doi. 10.1002/ajmg.a.35287

By:

Madrigal, Irene;
Martinez, Margarita;
Rodriguez-Revenga, Laia;
Carrió, Ana;
Milà, Montserrat

Publication type:

Article

Autism and epistemology III: Child development, behavioral stability, and reliability of measurement.

Published in:

2012

By:

Fisch, Gene S.

Publication type:

Editorial

American Journal of Medical Genetics Part A: Volume 158A, Number 5, May 2012.

Published in:: 2012
Publication type:: Other

Uncommon disorders in the spotlight.

Published in:: 2012
Publication type:: Other

Generation n + 1: Projected numbers of babies born to women with PKU compared to babies with PKU in the United States in 2009.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1118, doi. 10.1002/ajmg.a.35312

By:

Resta, Robert

Publication type:

Article

Book review of 'Your Genealogy Affects Your Health (Know Your Family Tree)' by F. Clarke Fraser.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1242, doi. 10.1002/ajmg.a.35260

By:

Lowry, R. Brian

Publication type:

Article

Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1233, doi. 10.1002/ajmg.a.35305

By:

Ribeiro-Bicudo, Lucilene Arilho;
Quiezi, Rodrigo G.;
Guion-Almeida, Maria Leine;
Legnaro, Chiara;
Richieri-Costa, Antonio

Publication type:

Article

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1055, doi. 10.1002/ajmg.a.35271

By:

Brusius-Facchin, Ana Carolina;
De Souza, Carolina Fischinger Moura;
Schwartz, Ida Vanessa D.;
Riegel, Mariluce;
Melaragno, Maria Isabel;
Correia, Patrícia;
Moraes, Lúcia Marques;
Llerena, Juan;
Giugliani, Roberto;
Leistner-Segal, Sandra

Publication type:

Article

Analysis of skeletal dysplasias in the Utah population.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1046, doi. 10.1002/ajmg.a.35327

By:

Stevenson, David A.;
Carey, John C.;
Byrne, Janice L.B.;
Srisukhumbowornchai, Sivithee;
Feldkamp, Marcia L.

Publication type:

Article

A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1221, doi. 10.1002/ajmg.a.35293

By:

Sorensen, Page L.;
Basuta, Kirin;
Mendoza-Morales, Guadalupe;
Gane, Louise W.;
Schneider, Andrea;
Hagerman, Randi;
Tassone, Flora

Publication type:

Article

Reduced telomere length in individuals with FMR1 premutations and full mutations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1060, doi. 10.1002/ajmg.a.35275

By:

Jenkins, Edmund C.;
Tassone, Flora;
Ye, Lingling;
Hoogeveen, André T.;
Brown, W. Ted;
Hagerman, Randi J.;
Hagerman, Paul J.

Publication type:

Article

Clinical epidemiology of skeletal dysplasias in South America.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1038, doi. 10.1002/ajmg.a.35246

By:

Barbosa-Buck, Cecília O.;
Orioli, Iêda M.;
da Graça Dutra, Maria;
Lopez-Camelo, Jorge;
Castilla, Eduardo E.;
Cavalcanti, Denise P.

Publication type:

Article

Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1195, doi. 10.1002/ajmg.a.35297

By:

Stevens, Cathy A.;
Chiang, Pei-Wen;
Messiaen, Ludwine M.

Publication type:

Article

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1185, doi. 10.1002/ajmg.a.35279

By:

Mégarbané, André;
Hanna, Nadine;
Chouery, Eliane;
Jalkh, Nadine;
Mehawej, Cybel;
Boileau, Catherine

Publication type:

Article

A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 989, doi. 10.1002/ajmg.a.34392

By:

Yang, Jeong Hoon;
Han, Hyejin;
Jang, Shin Yi;
Moon, Ju Ryoung;
Sung, Kiick;
Chung, Tae-Young;
Lee, Heung Jae;
Ki, Chang-Seok;
Kim, Duk-Kyung

Publication type:

Article

Clinical and molecular characterization of a second case of 7p22.1 microduplication.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1200, doi. 10.1002/ajmg.a.35300

By:

Preiksaitiene, Egle;
Kasnauskiene, Jurate;
Ciuladaite, Zivile;
Tumiene, Birute;
Patsalis, Philippos C.;
Kučinskas, Vaidutis

Publication type:

Article

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1111, doi. 10.1002/ajmg.a.35311

By:

Kvarnung, Malin;
Lindstrand, Anna;
Malmgren, Helena;
Thåström, Anders;
Jacobson, Lena;
Dahl, Niklas;
Lundin, Johanna;
Blennow, Elisabeth

Publication type:

Article

Pancreatic insufficiency in Toriello-Carey syndrome: Report of a second patient.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1208, doi. 10.1002/ajmg.a.35304

By:

El-Chammas, Khalil I.;
Venkatasubramani, Narayanan;
Veith, Regan;
Sekhri, Neha;
Rhead, William;
Toriello, Helga V.;
Goday, Praveen S.

Publication type:

Article

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1178, doi. 10.1002/ajmg.a.35270

By:

Brasil, Amanda S.;
Malaquias, Alexsandra C.;
Kim, Chong A.;
Krieger, José Eduardo;
Jorge, Alexander A.L.;
Pereira, Alexandre C.;
Bertola, Débora R.

Publication type:

Article

The face in congenital melanocytic nevus syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1014, doi. 10.1002/ajmg.a.34217

By:

Kinsler, Veronica;
Shaw, Adam C.;
Merks, Johannes H.;
Hennekam, Raoul C.

Publication type:

Article

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1083, doi. 10.1002/ajmg.a.35292

By:

Abe, Yu;
Aoki, Yoko;
Kuriyama, Shinichi;
Kawame, Hiroshi;
Okamoto, Nobuhiko;
Kurosawa, Kenji;
Ohashi, Hirofumi;
Mizuno, Seiji;
Ogata, Tsutomu;
Kure, Shigeo;
Niihori, Tetsuya;
Matsubara, Yoichi

Publication type:

Article

Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1145, doi. 10.1002/ajmg.a.35337

By:

Alberman, Eva;
Mutton, David;
Morris, Joan K.

Publication type:

Article

Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1158, doi. 10.1002/ajmg.a.35263

By:

Sohn, Young Bae;
Park, Sung Won;
Kim, Se-Hwa;
Cho, Sung-Yoon;
Ji, Sun-Tae;
Kwon, Eun Kyung;
Han, Sun Ju;
Oh, Se Jung;
Park, Yong Jae;
Ko, Ah-Ra;
Paik, Kyung-Hoon;
Lee, Jeehun;
Lee, Dong Hwan;
Jin, Dong-Kyu

Publication type:

Article

Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1212, doi. 10.1002/ajmg.a.35274

By:

Kuppler, Kevin M.;
Kirse, Daniel J.;
Thompson, James T.;
Haldeman-Englert, Chad R.

Publication type:

Article

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1020, doi. 10.1002/ajmg.a.35285

By:

Nowaczyk, Małgorzata J.M.;
Tan, Mattea;
Hamid, Jemila S.;
Allanson, Judith E.

Publication type:

Article

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1102, doi. 10.1002/ajmg.a.35296

By:

Burkitt-Wright, Emma M.M.;
Bradley, Lisa;
Shorto, Jennifer;
McConnell, Vivienne P.M.;
Gannon, Caroline;
Firth, Helen V.;
Park, Soo-Mi;
D'Amore, Angela;
Munyard, Paul F.;
Turnpenny, Peter D.;
Charlton, Amanda;
Wilson, Meredith;
Kerr, Bronwyn

Publication type:

Article

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1170, doi. 10.1002/ajmg.a.35267

By:

Brandt, Tracy;
Desai, Khyati;
Grodberg, David;
Mehta, Lakshmi;
Cohen, Ninette;
Tryfon, Ana;
Kolevzon, Alexander;
Soorya, Latha;
Buxbaum, Joseph D.;
Edelmann, Lisa

Publication type:

Article

Biobank participation and returning research results: Perspectives from a deliberative engagement in South Side Chicago.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1029, doi. 10.1002/ajmg.a.34414

By:

Lemke, Amy A.;
Halverson, Colin;
Ross, Lainie Friedman

Publication type:

Article

In this issue.

Published in:: 2012
Publication type:: Other

Prenatal ablation of nicotinic receptor alpha7 cell lineages produces lumbosacral spina bifida the severity of which is modified by choline and nicotine exposure.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1135, doi. 10.1002/ajmg.a.35372

By:

Rogers, Scott W.;
Tvrdik, Petr;
Capecchi, Mario R.;
Gahring, Lorise C.

Publication type:

Article

Somatic mosaicism and the phenotypic expression of COL2A1 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1204, doi. 10.1002/ajmg.a.35303

By:

Nagendran, Sonali;
Richards, Allan J.;
McNinch, Annie;
Sandford, Richard N.;
Snead, Martin P.

Publication type:

Article

Diagnostic yield in adults screened at the marfan outpatient clinic using the 1996 and 2010 ghent nosologies.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 982, doi. 10.1002/ajmg.a.35343

By:

Aalberts, Jan J.J.;
Thio, Chris H.L.;
Schuurman, Agnes G.;
van Langen, Irene M.;
van der Pol, Bert A.E.;
van Tintelen, J. Peter;
van den Berg, Maarten P.

Publication type:

Article

Microdeletion 19p13.2 in an almost 5-year-old boy.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1190, doi. 10.1002/ajmg.a.35291

By:

Haberlandt, Edda;
Spreiz, Ana;
Sigl, Sara Baumgartner;
Janetschek, Carolin;
Röthlisberger, Benno;
Zotter, Sibylle;
Rostasy, Kevin;
Zschocke, Johannes;
Kotzot, Dieter

Publication type:

Article

EEC syndrome-like phenotype in a patient with an IRF6 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1219, doi. 10.1002/ajmg.a.35273

By:

Kosaki, Rika;
Kaneko, Tsuyoshi;
Torii, Chiharu;
Kosaki, Kenjiro

Publication type:

Article

Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1005, doi. 10.1002/ajmg.a.35255

By:

Lin, Henry C.;
Le Hoang, Phuc;
Hutchinson, Anne;
Chao, Grace;
Gerfen, Jennifer;
Loomes, Kathleen M.;
Krantz, Ian;
Kamath, Binita M.;
Spinner, Nancy B.

Publication type:

Article

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1225, doi. 10.1002/ajmg.a.35295

By:

Coutinho, Maria Francisca;
Santos, Liliana da Silva;
Girisha, Katta Mohan;
Satyamoorthy, Kapaettu;
Lacerda, Lúcia;
Prata, Maria João;
Alves, Sandra

Publication type:

Article

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1164, doi. 10.1002/ajmg.a.35266

By:

Castori, Marco;
Ritelli, Marco;
Zoppi, Nicoletta;
Molisso, Luisa;
Chiarelli, Nicola;
Zaccagna, Fulvio;
Grammatico, Paola;
Colombi, Marina

Publication type:

Article

Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1216, doi. 10.1002/ajmg.a.35277

By:

Fattori, Rossella;
Sangiorgio, Pietro;
Mariucci, Elisabetta;
Ritelli, Marco;
Wischmeijer, Anita;
Greco, Cristiano;
Colombi, Marina

Publication type:

Article

Defining small eye phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1243, doi. 10.1002/ajmg.a.35208

By:

Khan, Kamron;
Giasin, Osama

Publication type:

Article

Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1151, doi. 10.1002/ajmg.a.35248

By:

Morris, Joan K.;
Alberman, Eva;
Mutton, David;
Jacobs, Patricia

Publication type:

Article