Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 5

Results: 50

Mental retardation: Is naming the real issue?

Published in:

2011

By:

Chiurazzi, Pietro

Publication type:

Editorial

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1170, doi. 10.1002/ajmg.a.33972

By:

Edvardson, S.;
Jalas, C.;
Shaag, A.;
Zenvirt, S.;
Landau, C.;
Lerer, I.;
Elpeleg, O.

Publication type:

Article

WNT10A and isolated hypodontia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1119, doi. 10.1002/ajmg.a.33840

By:

Kantaputra, Piranit;
Sripathomsawat, Warissara

Publication type:

Article

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1140, doi. 10.1002/ajmg.a.33880

By:

Parrini, Elena;
Rivas, Isabel Llano;
Toral, Joaquin Fernandez;
Pucatti, Daniela;
Giglio, Sabrina;
Mei, Davide;
Guerrini, Renzo

Publication type:

Article

Multiple increased osteoclast functions in individuals with neurofibromatosis type 1.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1050, doi. 10.1002/ajmg.a.33965

By:

Stevenson, David A.;
Yan, Jincheng;
He, Yongzheng;
Li, Huijie;
Liu, Yaling;
Zhang, Qi;
Jing, Yongmin;
Guo, Zhiping;
Zhang, Wei;
Yang, Dalong;
Wu, Xiaohua;
Hanson, Heather;
Li, Xiaohong;
Staser, Karl;
Viskochil, David H.;
Carey, John C.;
Chen, Shi;
Miller, Lucy;
Roberson, Kent;
Moyer-Mileur, Laurie

Publication type:

Article

Homozygosity mapping identifies the Crumbs homologue 1 ( Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1001, doi. 10.1002/ajmg.a.33862

By:

Zenteno, Juan Carlos;
Buentello-Volante, Beatriz;
Ayala-Ramirez, Raul;
Villanueva-Mendoza, Cristina

Publication type:

Article

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1109, doi. 10.1002/ajmg.a.33833

By:

Franek, Karl J.;
Butler, Julia;
Johnson, John;
Simensen, Richard;
Friez, Michael J.;
Bartel, Frank;
Moss, Tonya;
DuPont, Barbara;
Berry, Katherine;
Bauman, Margaret;
Skinner, Cindy;
Stevenson, Roger E.;
Schwartz, Charles E.

Publication type:

Article

PTPN11 gene mutation associated with abnormal gonadal determination.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1136, doi. 10.1002/ajmg.a.33873

By:

Jain Ghai, Shailly;
Keating, Sarah;
Chitayat, David

Publication type:

Article

In this issue.

Published in:: 2011
Publication type:: Other

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1102, doi. 10.1002/ajmg.a.33895

By:

Smigiel, Robert;
Jakubiak, Aleksandra;
Lombardi, Maria Paola;
Jaworski, Wojciech;
Slezak, Ryszard;
Patkowski, Dariusz;
Hennekam, Raoul C.

Publication type:

Article

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1106, doi. 10.1002/ajmg.a.33826

By:

Prontera, Paolo;
Rogaia, Daniela;
Sobacchi, Cristina;
Tavares, Vanessa Luiza Romanelli;
Mazzotta, Giovanni;
Passos-Bueno, Maria Rita;
Donti, Emilio

Publication type:

Article

6q27 subtelomeric deletions: Is there a specific phenotype?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1213, doi. 10.1002/ajmg.a.33877

By:

Rigon, Chiara;
Salviati, Leonardo;
Mandarano, Romina;
Donà, Marta;
Clementi, Maurizio

Publication type:

Article

From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1123, doi. 10.1002/ajmg.a.33859

By:

Chung, Brian;
Shaffer, Lisa G.;
Keating, Sarah;
Johnson, Joan;
Casey, Bret;
Chitayat, David

Publication type:

Article

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 988, doi. 10.1002/ajmg.a.33960

By:

Vieira, Gustavo H.;
Rodriguez, Jayson D.;
Boy, Raquel;
de Paiva, Isaias Soares;
DuPont, Barbara R.;
Moretti-Ferreira, Danilo;
Srivastava, Anand K.

Publication type:

Article

HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.

Published in:

2011

By:

Sampath, Srirangan;
Keats, Bronya J.B.;
Lacassie, Yves

Publication type:

Other

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1152, doi. 10.1002/ajmg.a.33942

By:

Filho, Aguinaldo Bonalumi;
Souza, Josiane;
Faucz, Fábio Rueda;
Sotomaior, Vanessa Santos;
Dupont, Barbara;
Bartel, Frank;
Rodriguez, Reycel;
Schwartz, Charles E.;
Skinner, Cindy;
Alliman, Sarah;
Raskin, Salmo

Publication type:

Article

der(4)t(Y;4): Three-generation transmission and sperm meiotic segregation analysis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1157, doi. 10.1002/ajmg.a.33953

By:

Vozdova, Miluse;
Horinova, Vera;
Wernerova, Vendula;
Skalikova, Romana;
Rybar, Roman;
Prinosilova, Petra;
Oracova, Eva;
Rubes, Jiri

Publication type:

Article

The Richieri-Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1173, doi. 10.1002/ajmg.a.33975

By:

Souza, Josiane;
dal Vesco, Karin;
Tonocchi, Rita;
Closs-Ono, Maria Cecília;
Passos-Bueno, Maria Rita;
da Silva-Freitas, Renato

Publication type:

Article

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1192, doi. 10.1002/ajmg.a.33986

By:

de Smith, Adam J.;
van Haelst, Mieke M.;
Ellis, Richard J.;
Holder, Susan E.;
Payne, Stewart J.;
Hashim, Sugera K.;
Froguel, Philippe;
Blakemore, Alexandra I.F.

Publication type:

Article

Wilms tumor in a patient with 22q11.2 microdeletion.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1162, doi. 10.1002/ajmg.a.33957

By:

Finch, Paul T.;
Pivnick, Eniko K.;
Furman, Wayne;
Odom, Christine C.

Publication type:

Article

Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999-2005.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1007, doi. 10.1002/ajmg.a.33883

By:

Lupo, Philip J.;
Langlois, Peter H.;
Mitchell, Laura E.

Publication type:

Article

Late onset Pompe disease revealed by newborn screening.

Published in:: 2011
Publication type:: Other

Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1033, doi. 10.1002/ajmg.a.33928

By:

Bruns, Deborah

Publication type:

Article

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1165, doi. 10.1002/ajmg.a.33968

By:

Andrabi, Sara;
Bekheirnia, Mir Reza;
Robbins-Furman, Patricia;
Lewis, Richard Alan;
Prior, Thomas W.;
Potocki, Lorraine

Publication type:

Article

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1202, doi. 10.1002/ajmg.a.33209

By:

Bazazzadegan, Niloofar;
Sheffield, Abraham M.;
Sobhani, Masoomeh;
Kahrizi, Kimia;
Meyer, Nicole C.;
Van Camp, Guy;
Hilgert, Nele;
Abedini, Seyedeh Sedigheh;
Habibi, Farkhondeh;
Daneshi, Ahmad;
Nishimura, Carla;
Avenarius, Matthew R.;
Farhadi, Mohammad;
Smith, Richard J.H.;
Najmabadi, Hossein

Publication type:

Article

Risk factors for aortic valve disease in bicuspid aortic valve: A family-based study.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1015, doi. 10.1002/ajmg.a.33974

By:

Calloway, Troy J.;
Martin, Lisa J.;
Zhang, Xue;
Tandon, Animesh;
Benson, D. Woodrow;
Hinton, Robert B.

Publication type:

Article

Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues.

Published in:

2011

By:

Battaglia, Agatino

Publication type:

Editorial

Costello syndrome community mourns New Zealand pediatrician.

Published in:: 2011
Publication type:: Other

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1178, doi. 10.1002/ajmg.a.33813

By:

Sousa, Sérgio B.;
Lambot-Juhan, Karen;
Rio, Marlène;
Baujat, Geneviève;
Topouchian, Vicken;
Hanna, Nadine;
Le Merrer, Martine;
Brunelle, Francis;
Munnich, Arnold;
Boileau, Catherine;
Cormier-Daire, Valérie

Publication type:

Article

Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1189, doi. 10.1002/ajmg.a.33967

By:

Kosaki, Rika;
Fujita, Hideki;
Takada, Hazuki;
Okada, Michiyo;
Torii, Chiharu;
Kosaki, Kenjiro

Publication type:

Article

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1196, doi. 10.1002/ajmg.a.34002

By:

Slavotinek, Anne M.;
Rosenfeld, Jill A.;
Chao, Ryan;
Niyazov, Dimitry;
Eswara, Marthand;
Bader, Patricia I.;
Stockton, David W.;
Stankiewicz, Pawel;
Adam, Margaret P.

Publication type:

Article

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1147, doi. 10.1002/ajmg.a.33938

By:

Mégarbané, André;
Chouery, Eliane;
Mignon-Ravix, Cécile;
El Sabbagh, Sandra;
Corbani, Sandra;
Ghoch, Joelle Abou;
Jalkh, Nadine;
Mehawej, Cybel;
Lévy, Nicolas;
Villard, Laurent

Publication type:

Article

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1060, doi. 10.1002/ajmg.a.33978

By:

Shkalim, Vered;
Ben-Sira, Liat;
Inbar, Dov;
Kaadan, Walid;
Basel-Vanagaite, Lina;
Straussberg, Rachel

Publication type:

Article

Nosology and classification of genetic skeletal disorders: 2010 revision.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 943, doi. 10.1002/ajmg.a.33909

By:

Warman, Matthew L.;
Cormier-Daire, Valerie;
Hall, Christine;
Krakow, Deborah;
Lachman, Ralph;
LeMerrer, Martine;
Mortier, Geert;
Mundlos, Stefan;
Nishimura, Gen;
Rimoin, David L.;
Robertson, Stephen;
Savarirayan, Ravi;
Sillence, David;
Spranger, Juergen;
Unger, Sheila;
Zabel, Bernhard;
Superti-Furga, Andrea

Publication type:

Article

Table of Contents, Volume 155, Number 5, May 2011.

Published in:: 2011
Publication type:: Other

Implementing the elements of morphology in the American Journal of Medical Genetics.

Published in:

2011

By:

Biesecker, Leslie G.;
Carey, John C.

Publication type:

Editorial

Vestibular dysfunction in DFNB1 deafness.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 993, doi. 10.1002/ajmg.a.33828

By:

Dodson, Kelley M.;
Blanton, Susan H;
Welch, Katherine O;
Norris, Virginia W;
Nuzzo, Regina L;
Wegelin, Jacob A.;
Marin, Ruth S;
Nance, Walter E;
Pandya, Arti;
Arnos, Kathleen S

Publication type:

Article

Corrigendum to 'Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome' Am J Med Genet 152A: 1661-1669.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1215, doi. 10.1002/ajmg.a.33680

By:

Thompson, Miles D.;
Nezarati, Marjan M.;
Gillessen-Kaesbach, Gabriele;
Meinecke, Peter;
Mendoza-Londono, Roberto;
Mornet, Etienne;
Brun-Heath, Isabelle;
Squarcioni, Catherine Prost;
Legeai-Mallet, Laurence;
Munnich, Arnold;
Cole, David E.C.

Publication type:

Article

Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1129, doi. 10.1002/ajmg.a.33868

By:

Balci, Sevim;
Tümer, Celal;
Karaca, Çiğdem;
Bartsch, Oliver

Publication type:

Article

Nutritional phases in Prader-Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1040, doi. 10.1002/ajmg.a.33951

By:

Miller, Jennifer L.;
Lynn, Christy H.;
Driscoll, Danielle C.;
Goldstone, Anthony P.;
Gold, June-Anne;
Kimonis, Virginia;
Dykens, Elisabeth;
Butler, Merlin G.;
Shuster, Jonathan J.;
Driscoll, Daniel J.

Publication type:

Article

The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1066, doi. 10.1002/ajmg.a.33991

By:

Barge-Schaapveld, Daniela Q.C.M.;
Maas, Saskia M.;
Polstra, Abeltje;
Knegt, Lia C.;
Hennekam, Raoul C.M.

Publication type:

Article

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1096, doi. 10.1002/ajmg.a.33962

By:

Sensi, Alberto;
Ceruti, Stefano;
Trevisi, Patrizia;
Gualandi, Francesca;
Busi, Micol;
Donati, Ilaria;
Neri, Marcella;
Ferlini, Alessandra;
Martini, Alessandro

Publication type:

Article

A comprehensive description of the severity groups in Cockayne syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1081, doi. 10.1002/ajmg.a.33933

By:

Natale, Valerie

Publication type:

Article

Book review.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1212, doi. 10.1002/ajmg.a.33973

By:

Fraser, F. Clarke

Publication type:

Article

Short-term follow-up of a Brazilian patient with Cantú syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1184, doi. 10.1002/ajmg.a.33904

By:

Graziadio, Carla;
Rosa, Rafael F.M.;
Rosa, Rosana C.M.;
Zen, Paulo R.G.;
Flores, José A.M.;
Paskulin, Giorgio A.

Publication type:

Article

Invited comment on terminology.

Published in:

2011

By:

Moeschler, John B.;
Nisbeft, Jan

Publication type:

Editorial

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1021, doi. 10.1002/ajmg.a.33892

By:

Keppler-Noreuil, Kim M.;
Adam, Margaret P.;
Welch, Judy;
Muilenburg, Ann;
Willing, Marcia C.

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 155, Number 5, May 2011.

Published in:: 2011
Publication type:: Other

Left ventricular noncompaction in Sotos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1115, doi. 10.1002/ajmg.a.33838

By:

Martinez, Hugo R.;
Belmont, John W.;
Craigen, William J.;
Taylor, Michael D.;
Jefferies, John L.

Publication type:

Article

Wisconsin stillbirth services program: A multifocal approach to stillbirth analysis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1073, doi. 10.1002/ajmg.a.34016

By:

VanderWielen, Beth;
Zaleski, Christina;
Cold, Christopher;
McPherson, Elizabeth

Publication type:

Article