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

Results: 34

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
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
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
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
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
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
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
Genetic culprit of rare autoinflammatory disorder confirmed.
Published in:
2012
Publication type:
Other
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
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
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