Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 4

Results: 50

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 915, doi. 10.1002/ajmg.a.33924

By:

Rodríguez, Laura;
Nevado, Julián;
Vallespin, Elena;
Palomares, María;
Golmayo, Luz;
Bonaglia, María Clara;
Delicado, Alicia;
Abarca, Elena

Publication type:

Article

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3′ end of the FBN1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 717, doi. 10.1002/ajmg.a.33906

By:

Goldblatt, Jack;
Hyatt, Jill;
Edwards, Caitlin;
Walpole, Ian

Publication type:

Article

A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 935, doi. 10.1002/ajmg.a.33872

By:

Benito-Sanz, S.;
Aragones, A.;
Gracia, R.;
Campos-Barros, A.;
Heath, K.E.

Publication type:

Article

Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 805, doi. 10.1002/ajmg.a.33917

By:

Cubells, Joseph F.;
DeOreo, Elizabeth H.;
Harvey, Philip D.;
Garlow, Steven J.;
Garber, Kathryn;
Adam, Margaret P.;
Martin, Christa Lese

Publication type:

Article

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 924, doi. 10.1002/ajmg.a.33740

By:

Simões-Teixeira, Helena;
Matos, Tiago D.;
Marques, Marta Canas;
Dias, Óscar;
Andrea, Mário;
Barreiros, Eduardo;
Barreiros, Luís;
Moreno, Felipe;
Fialho, Graça;
Caria, Helena;
del Castillo, Ignacio

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 155, Number 4, April 2011.

Published in:: 2011
Publication type:: Other

UPD detection using homozygosity profiling with a SNP genotyping microarray.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 757, doi. 10.1002/ajmg.a.33939

By:

Papenhausen, Peter;
Schwartz, Stuart;
Risheg, Hiba;
Keitges, Elisabeth;
Gadi, Inder;
Burnside, Rachel D.;
Jaswaney, Vikram;
Pappas, John;
Pasion, Romela;
Friedman, Kenneth;
Tepperberg, James

Publication type:

Article

A comparison of the background, needs, and expectations of patients seeking genetic counseling services.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 697, doi. 10.1002/ajmg.a.33979

By:

Peters, Kathryn F.;
Petrill, Stephen A.

Publication type:

Article

A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 833, doi. 10.1002/ajmg.a.33876

By:

Pallister, Philip D.;
Pallister, Adam B.;
South, Sarah;
Toydemir, Reha;
Johnson, John P.;
Beischel, Linda;
Opitz, John M.

Publication type:

Article

Spondylometaphyseal dysplasia with cone-rod dystrophy.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 845, doi. 10.1002/ajmg.a.33898

By:

Kitoh, Hiroshi;
Kaneko, Hiroshi;
Kondo, Mineo;
Yamamoto, Toshiyuki;
Ishiguro, Naoki;
Nishimura, Gen

Publication type:

Article

Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 825, doi. 10.1002/ajmg.a.33869

By:

Petti, Marilena;
Samanich, Joy;
Pan, Qiulu;
Huang, Chih-Kang;
Reinmund, Jana;
Farooqi, Sadaf;
Morrow, Bernice;
Babcock, Melanie

Publication type:

Article

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 721, doi. 10.1002/ajmg.a.33905

By:

Horn, Denise;
Robinson, Peter N.

Publication type:

Article

Corrigendum.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 942, doi. 10.1002/ajmg.a.33304

By:

Benedicenti, Francesco

Publication type:

Article

Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 855, doi. 10.1002/ajmg.a.33901

By:

Murphy-Ryan, Maureen;
Babovic-Vuksanovic, Dusica;
Lindor, Noralane

Publication type:

Article

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 892, doi. 10.1002/ajmg.a.33923

By:

Conti, Valerio;
Marini, Carla;
Gana, Simone;
Sudi, Jyotsna;
Dobyns, William B.;
Guerrini, Renzo

Publication type:

Article

An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 748, doi. 10.1002/ajmg.a.33934

By:

Lin, Angela E.;
Singh, Kathryn E.;
Strauss, Arthur;
Nguyen, Son;
Rawson, Kristyn;
Kimonis, Virginia E.

Publication type:

Article

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 938, doi. 10.1002/ajmg.a.33871

By:

Reish, Orit;
Huber, Céline;
Altarescu, Gheona;
Chapman-Shimshoni, Daphne;
Levy-Lahad, Ephrat;
Renbaum, Paul;
Mashevich, Maya;
Munnich, Arnold;
Cormier-Daire, Valérie

Publication type:

Article

Mutational analysis of PACT gene in Chinese patients with microtia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 906, doi. 10.1002/ajmg.a.32821

By:

Lin, Lin;
Pan, Bo;
Jiang, Haiyue;
Zhuang, Hongxing;
Zhao, Yanyong;
Guo, Dongjun;
Yu, Dashan

Publication type:

Article

Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 819, doi. 10.1002/ajmg.a.33916

By:

Carmany, Erin P.;
Bawle, Erawati V.

Publication type:

Article

Prevalence and patterns of choanal atresia and choanal stenosis among pregnancies in Texas, 1999-2004.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 786, doi. 10.1002/ajmg.a.33882

By:

Case, Amy P.;
Mitchell, Laura E.

Publication type:

Article

AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 898, doi. 10.1002/ajmg.a.33927

By:

Marvin, Monica L.;
Mazzoni, Serina M.;
Herron, Casey M.;
Edwards, Sean;
Gruber, Stephen B.;
Petty, Elizabeth M.

Publication type:

Article

Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 903, doi. 10.1002/ajmg.a.33835

By:

Kosaki, Rika;
Fujita, Hideki;
Ueoka, Katsuhiko;
Torii, Chiharu;
Kosaki, Kenjiro

Publication type:

Article

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 928, doi. 10.1002/ajmg.a.33817

By:

Prontera, Paolo;
Stangoni, Gabriela;
Ardisia, Carmela;
Rogaia, Daniela;
Mencarelli, Amedea;
Donti, Emilio

Publication type:

Article

Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

Published in:

2011

By:

Anderson, Christopher;
Davies, Justin H.;
Lamont, Lilias;
Foulds, Nicola

Publication type:

Other

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 880, doi. 10.1002/ajmg.a.33879

By:

Ravel, Aimé;
Chouery, Eliane;
Stora, Samantha;
Jalkh, Nadine;
Villard, Laurent;
Temtamy, Samia;
Mégarbané, André

Publication type:

Article

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 725, doi. 10.1002/ajmg.a.33758

By:

Jaillard, Sylvie;
Andrieux, Joris;
Plessis, Ghislaine;
Krepischi, Ana C.V.;
Lucas, Josette;
David, Véronique;
Le Brun, Marine;
Bertola, Debora R.;
David, Albert;
Belaud-Rotureau, Marc-Antoine;
Mosser, Jean;
Lazaro, Leila;
Treguier, Catherine;
Rosenberg, Carla;
Odent, Sylvie;
Dubourg, Christèle

Publication type:

Article

Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 850, doi. 10.1002/ajmg.a.33900

By:

Rohena, Luis;
Kuehn, Devon;
Marchegiani, Shannon;
Higginson, Jason D

Publication type:

Article

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 815, doi. 10.1002/ajmg.a.33911

By:

Nicolas, Gaël;
Devys, Didier;
Goldenberg, Alice;
Maltête, David;
Hervé, Catherine;
Hannequin, Didier;
Guyant-Maréchal, Lucie

Publication type:

Article

A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 ( LIS1) gene.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 875, doi. 10.1002/ajmg.a.33944

By:

Avela, Kristiina;
Aktan-Collan, Katja;
Horelli-Kuitunen, Nina;
Knuutila, Sakari;
Somer, Mirja

Publication type:

Article

An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 778, doi. 10.1002/ajmg.a.33870

By:

Castellani, Carlo;
Perobelli, Sandra;
Bianchi, Vera;
Seia, Manuela;
Melotti, Paola;
Zanolla, Luisa;
Assael, Baroukh Maurice;
Lalatta, Faustina

Publication type:

Article

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 840, doi. 10.1002/ajmg.a.33881

By:

Alfadhel, Majid;
Lillquist, Yolanda P.;
Waters, Paula J.;
Sinclair, Graham;
Struys, Eduard;
McFadden, Deborah;
Hendson, Glenda;
Hyams, Lauren;
Shoffner, John;
Vallance, Hilary D.

Publication type:

Article

Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 737, doi. 10.1002/ajmg.a.33896

By:

McCarty, Catherine A.;
Garber, Ann;
Reeser, Jonathan C.;
Fost, Norman C.

Publication type:

Article

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 769, doi. 10.1002/ajmg.a.33852

By:

Lonardo, Fortunato;
Perone, Lucia;
Maioli, Marianna;
Ciavarella, Maria;
Ciccone, Roberto;
Monica, Matteo Della;
Lombardi, Cinzia;
Forino, Luisa;
Cantalupo, Giuseppina;
Masella, Lucia;
Scarano, Francesca

Publication type:

Article

Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 940, doi. 10.1002/ajmg.a.33937

By:

Nowaczyk, Małgorzata J.M.

Publication type:

Article

Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 684, doi. 10.1002/ajmg.a.33863

By:

Peters, Kathryn F.;
Petrill, Stephen A.

Publication type:

Article

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 860, doi. 10.1002/ajmg.a.33903

By:

Wannasilp, Nilrat;
Solomon, Benjamin D.;
Warren-Mora, Nicole;
Clegg, Nancy J.;
Delgado, Mauricio R.;
Lacbawan, Felicitas;
Hu, Ping;
Winder, Thomas L.;
Roessler, Erich;
Muenke, Maximilian

Publication type:

Article

Pulmonary manifestations in Proteus syndrome: Pulmonary varicosities and bullous lung disease.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 865, doi. 10.1002/ajmg.a.33926

By:

Lim, Gye-Yeon;
Kim, Ok-Hwa;
Kim, Hyun Woo;
Lee, Ki Seok;
Kang, Kyung Hee;
Song, Hae-Ryong;
Cho, Tae-Joon

Publication type:

Article

Development of a scale to assess the background, needs, and expectations of genetic counseling clients.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 673, doi. 10.1002/ajmg.a.33610

By:

Peters, Kathryn F.;
Petrill, Stephen A.

Publication type:

Article

Human equivalent of mouse disorganization: Has the case been made?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 792, doi. 10.1002/ajmg.a.33910

By:

Hunter, Alasdair G.W.

Publication type:

Article

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 706, doi. 10.1002/ajmg.a.33884

By:

Gripp, Karen W.;
Hopkins, Elizabeth;
Sol-Church, Katia;
Stabley, Deborah L.;
Axelrad, Marni E.;
Doyle, Daniel;
Dobyns, William B.;
Hudson, Cindy;
Johnson, John;
Tenconi, Romano;
Graham, Gail E.;
Sousa, Ana Berta;
Heller, Raoul;
Piccione, Maria;
Corsello, Giovanni;
Herman, Gail E.;
Tartaglia, Marco;
Lin, Angela E.

Publication type:

Article

A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 931, doi. 10.1002/ajmg.a.33834

By:

Ma, Gwo-Chin;
Ke, Yu-Yuan;
Chang, Shun-Ping;
Lee, Dong-Jay;
Chen, Ming

Publication type:

Article

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 732, doi. 10.1002/ajmg.a.33891

By:

Shimojima, Keiko;
Isidor, Bertrand;
Le Caignec, Cédric;
Kondo, Akiko;
Sakata, Shinji;
Ohno, Kousaku;
Yamamoto, Toshiyuki

Publication type:

Article

Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 870, doi. 10.1002/ajmg.a.33936

By:

Yachelevich, Naomi;
Gittler, Julia Klein;
Klugman, Susan;
Feldman, Barbara;
Martin, Joanna;
Brooks, Susan Sklower;
Dobkin, Carl;
Nolin, Sarah L.

Publication type:

Article

Congenital isolated leukonychia totalis in three Egyptian sibs.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 811, doi. 10.1002/ajmg.a.33907

By:

Afifi, Hanan H.;
Abdel-Hamid, Mahmoud F.;
Zaki, Maha S.

Publication type:

Article

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 885, doi. 10.1002/ajmg.a.33918

By:

Argiropoulos, Bob;
Carter, Melissa;
Brierley, Kathy;
Hare, Heather;
Bouchard, Amélie;
Al-Hertani, Walla;
Ryan, Shannon R.;
Reid, Judith;
Basik, Mark;
McGowan-Jordan, Jean;
Graham, Gail E.

Publication type:

Article

Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 742, doi. 10.1002/ajmg.a.33914

By:

Reinstein, Eyal;
Wang, Raymond Y.;
Zhan, Ling;
Rimoin, David L.;
Wilcox, William R.

Publication type:

Article

An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 920, doi. 10.1002/ajmg.a.33929

By:

Raymond, Gerald;
Wohler, Elizabeth;
Dinsmore, Carolyn;
Cox, Jeanne;
Johnston, Michael;
Batista, Denise;
Wang, Tao

Publication type:

Article

Table of Contents, Volume 155, Number 4, April 2011.

Published in:: 2011
Publication type:: Other

Then and now: Past Opitz winners discuss the influence of the award on their careers.

Published in:

2011

By:

Levenson, Deborah

Publication type:

Other

Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 911, doi. 10.1002/ajmg.a.33899

By:

Specchio, Nicola;
Carotenuto, Antonio;
Trivisano, Marina;
Cappelletti, Simona;
Digilio, Cristina;
Capolino, Rossella;
Di Capua, Matteo;
Fusco, Lucia;
Vigevano, Federico

Publication type:

Article