Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 2

Results: 34

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.

Published in:

2012

By:

Oudesluijs, Grétel;
Simon, Marleen E.H.;
Burggraaf, Rianne H.J.;
Waterham, Hans R.;
Hennekam, Raoul C.M.

Publication type:

Other

The perceived personal control (PPC) questionnaire: Reliability and validity in a sample from the United Kingdom.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 367, doi. 10.1002/ajmg.a.34374

By:

McAllister, Marion;
Wood, Alex M.;
Dunn, Graham;
Shiloh, Shoshana;
Todd, Chris

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 158A, Number 2, February 2012.

Published in:: 2012
Publication type:: Other

In this issue.

Published in:: 2012
Publication type:: Other

Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 469, doi. 10.1002/ajmg.a.34410

By:

Gardeitchik, T.;
de Leeuw, N.;
Nijtmans, L.;
Jira, P.;
Kozicz, T.;
Czako, M.;
van de Burgt, I.;
Morava, E.

Publication type:

Article

Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 351, doi. 10.1002/ajmg.a.34421

By:

Endo, Mamiko;
Fujii, Katsunori;
Sugita, Katsuo;
Saito, Kayoko;
Kohno, Yoichi;
Miyashita, Toshiyuki

Publication type:

Article

Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the 'phacomatosis complex'.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 445, doi. 10.1002/ajmg.a.34403

By:

Castori, Marco;
Scarciolla, Oronzo;
Morlino, Silvia;
Manente, Liborio;
Biscaglia, Assunta;
Fragasso, Alberto;
Grammatico, Paola

Publication type:

Article

Genome-wide SNP genotyping identifies the Stereocilin ( STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 298, doi. 10.1002/ajmg.a.34391

By:

Francey, Lauren J.;
Conlin, Laura K.;
Kadesch, Hanna E.;
Clark, Dinah;
Berrodin, Donna;
Sun, Yi;
Glessner, Joe;
Hakonarson, Hakon;
Jalas, Chaim;
Landau, Chaim;
Spinner, Nancy B.;
Kenna, Margaret;
Sagi, Michal;
Rehm, Heidi L.;
Krantz, Ian D.

Publication type:

Article

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 315, doi. 10.1002/ajmg.a.34407

By:

Lee, Kwanghyuk;
Ansar, Muhammad;
Andrade, Paula B.;
Khan, Bushra;
Santos-Cortez, Regie Lyn P.;
Ahmad, Wasim;
Leal, Suzanne M.

Publication type:

Article

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 340, doi. 10.1002/ajmg.a.34418

By:

Halbach, Nicky S.J.;
Smeets, Eric E.J.;
van den Braak, Noortje;
van Roozendaal, Kees E.P.;
Blok, Rien M.J.;
Schrander-Stumpel, Constance T.R.M.;
Frijns, Jean-Pierre;
Maaskant, Marian A.;
Curfs, Leopold M.G.

Publication type:

Article

The Boy in the Moon. A Father's Search for His Disabled Son. By Ian Brown. Random House, Canada, 2009. 296 p.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 473, doi. 10.1002/ajmg.a.34429

By:

Fraser, F. Clarke

Publication type:

Article

Myelodysplastic syndrome in a child with 15q24 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 412, doi. 10.1002/ajmg.a.34395

By:

Narumi, Yoko;
Shiohara, Masaaki;
Wakui, Keiko;
Hama, Asahito;
Kojima, Seiji;
Yoshikawa, Kentaro;
Amano, Yoshiro;
Kosho, Tomoki;
Fukushima, Yoshimitsu

Publication type:

Article

' Did you find that out in time?': New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 373, doi. 10.1002/ajmg.a.34399

By:

Hickerton, Chriselle L.;
Aitken, MaryAnne;
Hodgson, Jan;
Delatycki, Martin B.

Publication type:

Article

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 391, doi. 10.1002/ajmg.a.34216

By:

Muller, Eric A.;
Aradhya, Swaroop;
Atkin, Joan F.;
Carmany, Erin P.;
Elliott, Alison M.;
Chudley, Albert E.;
Clark, Robin D.;
Everman, David B.;
Garner, Shannon;
Hall, Bryan D.;
Herman, Gail E.;
Kivuva, Emma;
Ramanathan, Subhadra;
Stevenson, David A.;
Stockton, David W.;
Hudgins, Louanne

Publication type:

Article

Personalized medicine comes to cystic fibrosis.

Published in:: 2012
Publication type:: Other

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 269, doi. 10.1002/ajmg.a.34402

By:

Mirzaa, Ghayda M.;
Conway, Robert L.;
Gripp, Karen W.;
Lerman-Sagie, Tally;
Siegel, Dawn H.;
deVries, Linda S.;
Lev, Dorit;
Kramer, Nancy;
Hopkins, Elizabeth;
Graham, John M.;
Dobyns, William B.

Publication type:

Article

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 309, doi. 10.1002/ajmg.a.34406

By:

Tompson, Stuart W.;
Faqeih, Eissa Ali;
Ala-Kokko, Leena;
Hecht, Jacqueline T.;
Miki, Rika;
Funari, Tara;
Funari, Vincent A.;
Nevarez, Lisette;
Krakow, Deborah;
Cohn, Daniel H.

Publication type:

Article

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 455, doi. 10.1002/ajmg.a.34428

By:

Moran, Rocio;
Kuilenburg, André B.P.;
Duley, John;
Nabuurs, Sander B.;
Retno-Fitri, Aditia;
Christodoulou, John;
Roelofsen, Jeroen;
Yntema, Helger G.;
Friedman, Neil R.;
van Bokhoven, Hans;
de Brouwer, Arjan P.M.

Publication type:

Article

An 800 kb deletion at 17q23.2 including the MED13 ( THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 400, doi. 10.1002/ajmg.a.34222

By:

Boutry-Kryza, Nadia;
Labalme, Audrey;
Till, Marianne;
Schluth-Bolard, Caroline;
Langue, Jacques;
Turleau, Catherine;
Edery, Patrick;
Sanlaville, Damien

Publication type:

Article

Vici syndrome-A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 440, doi. 10.1002/ajmg.a.34273

By:

Said, Edith;
Soler, Doriette;
Sewry, Caroline

Publication type:

Article

Immunodeficiency in Vici syndrome: A heterogeneous phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 434, doi. 10.1002/ajmg.a.34244

By:

Finocchi, Andrea;
Angelino, Giulia;
Cantarutti, Nicoletta;
Corbari, Maurizio;
Bevivino, Elsa;
Cascioli, Simona;
Randisi, Francesco;
Bertini, Enrico;
Dionisi-Vici, Carlo

Publication type:

Article

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 461, doi. 10.1002/ajmg.a.34398

By:

Faletra, Flavio;
D'Adamo, Adamo Pio;
Rocca, Maria Santa;
Carrozzi, Marco;
Perrone, Maria Dolores;
Pecile, Vanna;
Gasparini, Paolo

Publication type:

Article

Genetic culprit of rare autoinflammatory disorder confirmed.

Published in:: 2012
Publication type:: Other

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 333, doi. 10.1002/ajmg.a.34401

By:

Lopez, Estelle;
Callier, Patrick;
Cormier-Daire, Valérie;
Lacombe, Didier;
Moncla, Anne;
Bottani, Armand;
Lambert, Sandy;
Goldenberg, Alice;
Doray, Bérénice;
Odent, Sylvie;
Sanlaville, Damien;
Gueneau, Lucie;
Duplomb, Laurence;
Huet, Frédéric;
Aral, Bernard;
Thauvin-Robinet, Christel;
Faivre, Laurence

Publication type:

Article

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 423, doi. 10.1002/ajmg.a.34412

By:

Begemann, Matthias;
Spengler, Sabrina;
Kordaß, Ulrike;
Schröder, Carmen;
Eggermann, Thomas

Publication type:

Article

Anthropometric charts for infants with trisomies 21, 18, or 13 born between 22 weeks gestation and term: The VON charts.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 322, doi. 10.1002/ajmg.a.34423

By:

Boghossian, Nansi S.;
Horbar, Jeffrey D.;
Murray, Jeffrey C.;
Carpenter, Joseph H.

Publication type:

Article

The behavioral phenotype of Mowat-Wilson syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 358, doi. 10.1002/ajmg.a.34405

By:

Evans, Elizabeth;
Einfeld, Stewart;
Mowat, David;
Taffe, John;
Tonge, Bruce;
Wilson, Meredith

Publication type:

Article

A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 429, doi. 10.1002/ajmg.a.34427

By:

Shoukier, Moneef;
Schröder, Julia;
Zoll, Barbara;
Burfeind, Peter;
Freiberg, Clemens;
Klinge, Lars;
Kriebel, Thomas;
Lingen, Michael;
Mohr, Alexander;
Brockmann, Knut

Publication type:

Article

Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 406, doi. 10.1002/ajmg.a.34272

By:

Brock, Jo-Ann K.;
Dyack, Sarah;
Ludman, Mark;
Dumas, Nadine;
Gaudet, Michele;
Morash, Barbara

Publication type:

Article

Report of a mother and daughter with the 12q14 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 417, doi. 10.1002/ajmg.a.34397

By:

Bibb, Audrey L.;
Rosenfeld, Jill A.;
Weaver, David D.

Publication type:

Article

Table of Contents, Volume 158A, Number 2, February 2012.

Published in:: 2012
Publication type:: Other

Effectively training pediatric residents to deliver diagnoses of Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 384, doi. 10.1002/ajmg.a.34422

By:

Lunney, Carol A.;
Kleinert, Harold L.;
Ferguson, James E.;
Campbell, Lynn

Publication type:

Article

Mosaic upd(7)mat in a patient with Silver-Russell syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 465, doi. 10.1002/ajmg.a.34404

By:

Fuke-Sato, Tomoko;
Yamazawa, Kazuki;
Nakabayashi, Kazuhiko;
Matsubara, Keiko;
Matsuoka, Kentaro;
Hasegawa, Tomonobu;
Dobashi, Kazushige;
Ogata, Tsutomu

Publication type:

Article

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 450, doi. 10.1002/ajmg.a.34415

By:

Jurecka, Agnieszka;
Krumina, Zita;
Żuber, Zbigniew;
Różdżyńska-Świątkowska, Agnieszka;
Kłoska, Anna;
Czartoryska, Barbara;
Tylki-Szymańska, Anna

Publication type:

Article