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