Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 3

Results: 41

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 553, doi. 10.1002/ajmg.a.35202

By:

Thompson, Miles D.;
Roscioli, Tony;
Marcelis, Carlo;
Nezarati, Marjan M.;
Stolte-Dijkstra, Irene;
Sharom, Frances J.;
Lu, Peihua;
Phillips, John A.;
Sweeney, Elizabeth;
Robinson, Peter N.;
Krawitz, Peter;
Yntema, Helger G.;
Andrade, Danielle M.;
Brunner, Han G.;
Cole, David E.C.

Publication type:

Article

In this issue.

Published in:: 2012
Publication type:: Other

Informing on prenatal screening for Down syndrome prior to conception. An empirical and ethical perspective.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 485, doi. 10.1002/ajmg.a.35213

By:

Schoonen, Marleen;
van der Zee, Boukje;
Wildschut, Hajo;
de Beaufort, Inez;
de Wert, Guido;
de Koning, Harry;
Essink-Bot, Marie-Louise;
Steegers, Eric

Publication type:

Article

Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 674, doi. 10.1002/ajmg.a.34258

By:

Tsuburaya, Rie;
Uematsu, Mitsugu;
Kikuchi, Atsuo;
Hino-Fukuyo, Naomi;
Kunishima, Shinji;
Kato, Mitsuhiro;
Haginoya, Kazuhiro;
Tsuchiya, Shigeru

Publication type:

Article

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 664, doi. 10.1002/ajmg.a.35206

By:

Richer, J.;
Milewicz, D.M.;
Gow, R.;
de Nanassy, J.;
Maharajh, G.;
Miller, E.;
Oppenheimer, L.;
Weiler, G.;
O'Connor, M.

Publication type:

Article

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 574, doi. 10.1002/ajmg.a.35217

By:

Breckpot, Jeroen;
Thienpont, Bernard;
Bauters, Marijke;
Tranchevent, Leon-Charles;
Gewillig, Marc;
Allegaert, Karel;
Vermeesch, Joris R.;
Moreau, Yves;
Devriendt, Koenraad

Publication type:

Article

Ophthalmic features of CHARGE syndrome with CHD7 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 514, doi. 10.1002/ajmg.a.34400

By:

Nishina, Sachiko;
Kosaki, Rika;
Yagihashi, Tatsuhiko;
Azuma, Noriyuki;
Okamoto, Nobuhiko;
Hatsukawa, Yoshikazu;
Kurosawa, Kenji;
Yamane, Takahiro;
Mizuno, Seiji;
Tsuzuki, Kinichi;
Kosaki, Kenjiro

Publication type:

Article

A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 680, doi. 10.1002/ajmg.a.34433

By:

Evers, Christina;
Janssen, Johannes W. G.;
Jauch, Anna;
Bonin, Michael;
Moog, Ute

Publication type:

Article

Implications for genotype-phenotype predictions in Townes-Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 533, doi. 10.1002/ajmg.a.34426

By:

Miller, Erin M.;
Hopkin, Robert;
Bao, Liming;
Ware, Stephanie M.

Publication type:

Article

An inherited disorder with splenomegaly, cytopenias, and vision loss.

Published in:

2012

By:

Tantravahi, Srinivas K.;
Williams, Lloyd B.;
Digre, Kathleen B.;
Creel, Donnell J.;
Smock, Kristi J.;
DeAngelis, Margaret M.;
Clayton, Frederic C.;
Vitale, Albert T.;
Rodgers, George M.

Publication type:

Other

Characterization of a novel KRAS mutation identified in Noonan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 524, doi. 10.1002/ajmg.a.34419

By:

Razzaque, Md. Abdur;
Komoike, Yuta;
Nishizawa, Tsutomu;
Inai, Kei;
Furutani, Michiko;
Higashinakagawa, Toru;
Matsuoka, Rumiko

Publication type:

Article

Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 659, doi. 10.1002/ajmg.a.35201

By:

Pereza, Nina;
Severinski, Srećko;
Ostojić, Saša;
Volk, Marija;
Maver, Aleš;
Dekanić, Kristina Baraba;
Kapović, Miljenko;
Peterlin, Borut

Publication type:

Article

Array CGH increasingly used in prenatal and postnatal testing.

Published in:: 2012
Publication type:: Other

Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 588, doi. 10.1002/ajmg.a.35223

By:

Hoeltzenbein, Maria;
Elefant, Elisabeth;
Vial, Thierry;
Finkel-Pekarsky, Victoriya;
Stephens, Sally;
Clementi, Maurizio;
Allignol, Arthur;
Weber-Schoendorfer, Corinna;
Schaefer, Christof

Publication type:

Article

The neurologic findings in Taybi-Linder syndrome (MOPD I/III): Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 606, doi. 10.1002/ajmg.a.33958

By:

Pierce, Melinda J.;
Morse, Richard P.

Publication type:

Article

Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: A skin biopsy should remain the diagnostic gold standard.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 669, doi. 10.1002/ajmg.a.35209

By:

Hodge, Jennelle C.;
Hulshizer, Rachael L.;
Seger, Pam;
St Antoine, Angelique;
Bair, Jennifer;
Kirmani, Salman

Publication type:

Article

Call for change in prenatal counseling for Down syndrome.

Published in:

2012

By:

McCabe, Linda L.;
McCabe, Edward R.B.

Publication type:

Editorial

Consanguinity and occurrence of cleft lip/palate: A hospital-based registry study in Riyadh.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 541, doi. 10.1002/ajmg.a.34432

By:

Ravichandran, Kandasamy;
Shoukri, Mohamed;
Aljohar, Aziza;
Shazia, Naz Subhani;
Al-Twaijri, Yasmin;
Al Jarba, Ibtisam

Publication type:

Article

Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2-q34.3.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 635, doi. 10.1002/ajmg.a.34425

By:

Xu, Wenbo;
Ahmad, Ayesha;
Dagenais, Susan;
Iyer, Ramaswamy K.;
Innis, Jeffrey W.

Publication type:

Article

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 547, doi. 10.1002/ajmg.a.34436

By:

Sacharow, Stephanie;
Li, Deling;
Fan, Yao Shan;
Tekin, Mustafa

Publication type:

Article

Case about medical patents makes its way to U.S. Supreme Court.

Published in:: 2012
Publication type:: Other

Further characterization of Shwachman-Diamond syndrome: Psychological functioning and quality of life in adult and young patients.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 567, doi. 10.1002/ajmg.a.35211

By:

Perobelli, Sandra;
Nicolis, Elena;
Assael, Baroukh Maurice;
Cipolli, Marco

Publication type:

Article

Table of Contents, Volume 158A, Number 3, March 2012.

Published in:: 2012
Publication type:: Other

Complex relationship between meiotic recombination frequency and autosomal synaptonemal complex length per cell in normal human males.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 581, doi. 10.1002/ajmg.a.35222

By:

Pan, Zhenzhen;
Yang, Qingling;
Ye, Nan;
Wang, Liu;
Li, Jianhua;
Yu, Dexin;
Cooke, Howard J.;
Shi, Qinghua

Publication type:

Article

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 689, doi. 10.1002/ajmg.a.35215

By:

Fonseca, Dora Janeth;
Prada, Carlos Fernando;
Siza, Luz Miriam;
Angel, Diana;
Gomez, Yenny Milena;
Restrepo, Carlos Martin;
Douben, Hannie;
Rivadeneira, Fernando;
de Klein, Annelies;
Laissue, Paul

Publication type:

Article

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 626, doi. 10.1002/ajmg.a.34420

By:

de Leeuw, K.;
Goorhuis, J.F.;
Tielliu, I.F.J.;
Symoens, S.;
Malfait, F.;
de Paepe, A.;
van Tintelen, J.P.;
Hulscher, J.B.F.

Publication type:

Article

Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 641, doi. 10.1002/ajmg.a.34431

By:

Pope, Kathleen;
Samanich, Joy;
Ramesh, K.H.;
Cannizzaro, Linda;
Pan, Qiulu;
Babcock, Melanie

Publication type:

Article

The importance of advanced parental age in the origin of neurofibromatosis type 1.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 519, doi. 10.1002/ajmg.a.34413

By:

Snajderova, Marta;
Riccardi, Vincent M.;
Petrak, Borivoj;
Zemkova, Daniela;
Zapletalova, Jirina;
Mardesic, Tonko;
Petrakova, Alena;
Lanska, Vera;
Marikova, Tatiana;
Bendova, Sarka;
Havlovicova, Marketa;
Kaluzova, Marie

Publication type:

Article

Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: Report of two patients.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 630, doi. 10.1002/ajmg.a.34424

By:

Saito, Tomoko;
Nagasaki, Keisuke;
Nishimura, Gen;
Takagi, Masaki;
Hasegawa, Tomonobu;
Uchiyama, Makoto

Publication type:

Article

Adams-Oliver syndrome and portal hypertension: Fortuitous association or common mechanism?

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 648, doi. 10.1002/ajmg.a.34435

By:

Silva, Gisela;
Braga, Alexandre;
Leitão, Banquart;
Mesquita, Abel;
Reis, Aurélio;
Duarte, Carlos;
Barbot, José;
Silva, Ermelinda Santos

Publication type:

Article

WDR62 missense mutation in a consanguineous family with primary microcephaly.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 622, doi. 10.1002/ajmg.a.34417

By:

Bacino, Carlos A.;
Arriola, Luis A.;
Wiszniewska, Joanna;
Bonnen, Penelope E.

Publication type:

Article

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 652, doi. 10.1002/ajmg.a.34439

By:

Pauli, Silke;
Steinemann, Doris;
Dittmann, Kai;
Wienands, Jürgen;
Shoukier, Moneef;
Möschner, Marita;
Burfeind, Peter;
Manukjan, Georgi;
Göhring, Gudrun;
Escherich, Gabriele

Publication type:

Article

Use and non-use of genetic counseling after diagnosis of a birth defect.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 559, doi. 10.1002/ajmg.a.35210

By:

Glynn, Anne;
Saya, Sibel;
Halliday, Jane

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 158A, Number 3, March 2012.

Published in:: 2012
Publication type:: Other

Family history of cleft lip and palate in subjects diagnosed with leukemia.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 678, doi. 10.1002/ajmg.a.34430

By:

Jindal, Aditi;
Vieira, Alexandre R.

Publication type:

Article

Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 509, doi. 10.1002/ajmg.a.34441

By:

Agergaard, Peter;
Olesen, Charlotte;
Østergaard, John Rosendahl;
Christiansen, Michael;
Sørensen, Karina Meden

Publication type:

Article

Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 685, doi. 10.1002/ajmg.a.34434

By:

Chen, Jin-Lan;
Yang, Yi-Feng;
Huang, Can;
Wang, Jian;
Yang, Jin-Fu;
Tan, Zhi-Ping

Publication type:

Article

The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population-based study.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 498, doi. 10.1002/ajmg.a.34250

By:

Agergaard, Peter;
Olesen, Charlotte;
Østergaard, John Rosendahl;
Christiansen, Michael;
Sørensen, Karina Meden

Publication type:

Article

Non-immune hydrops fetalis: A short review of etiology and pathophysiology.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 597, doi. 10.1002/ajmg.a.34438

By:

Bellini, Carlo;
Hennekam, Raoul CM

Publication type:

Article

Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 611, doi. 10.1002/ajmg.a.34221

By:

Margarit, Ester;
Morales, Carme;
Rodríguez-Revenga, Laia;
Monné, Raquel;
Badenas, Cèlia;
Soler, Anna;
Clusellas, Núria;
Mademont, Irene;
Sánchez, Aurora

Publication type:

Article

First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 617, doi. 10.1002/ajmg.a.34416

By:

Abdelhedi, Fatma;
Corcos, Johanna;
Cuisset, Laurence;
Tsatsaris, Vassilis;
Tantau, Julia;
Le Tessier, Dominique;
Lebbar, Aziza;
Dupont, Jean-Michel

Publication type:

Article