Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 6

Results: 53

Significant liver disease in a patient with Y116H mutation in the MVK gene.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1461, doi. 10.1002/ajmg.a.33915

By:

Leyva-Vega, Melissa;
Weiss, Pamela F.;
Ganesh, Jaya;
Conlin, Laura;
Spinner, Nancy B.;
Matthews, Randolph P.

Publication type:

Article

Additional features of unique Primrose syndrome phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1379, doi. 10.1002/ajmg.a.33955

By:

Carvalho, Daniel Rocha;
Speck-Martins, Carlos Eduardo

Publication type:

Article

A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1487, doi. 10.1002/ajmg.a.33995

By:

Tim-aroon, Thipwimol;
Jaovisidha, Suphaneewan;
Wattanasirichaigoon, Duangrurdee

Publication type:

Article

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1393, doi. 10.1002/ajmg.a.33966

By:

Seidahmed, Mohammed Zein;
Alkuraya, Fowzan S.;
Shaheed, Meeralebbae;
Al Zahrani, Mohammed;
Al Manea, Waleed;
Mansour, Fayzeh;
Mustafa, Tareq;
Farid, Gehan;
Salih, Mustafa A.

Publication type:

Article

Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1419, doi. 10.1002/ajmg.a.34001

By:

Spreafico, Filippo;
Notarangelo, Lucia Dora;
Schumacher, Richard Fabian;
Savoldi, Gianfranco;
Gamba, Beatrice;
Terenziani, Monica;
Collini, Paola;
Fasoli, Silvia;
Giordano, Lucio;
Luisa, Bercich;
Porta, Fulvio;
Massimino, Maura;
Radice, Paolo;
Perotti, Daniela

Publication type:

Article

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1472, doi. 10.1002/ajmg.a.33977

By:

Chiocchetti, A.;
Pakalapati, G.;
Duketis, E.;
Wiemann, S.;
Poustka, A.;
Poustka, F.;
Klauck, S. M.

Publication type:

Article

Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1437, doi. 10.1002/ajmg.a.34012

By:

Tonk, Vijay;
Kyhm, Jee Hong;
Gibson, Caro E.;
Wilson, Golder N.

Publication type:

Article

Corrigendum to 'Versteegh FGA, Buma SA, Costin G, Jong WC de, Hennekam RCM, EvC Working Party: 2007. Growth hormone analysis and treatment in Ellis-van Creveld syndrome. Am J Med Genet Part A 143A:2113-2121'.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1505, doi. 10.1002/ajmg.a.33948

By:

Versteegh, F.G.A.

Publication type:

Article

Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1384, doi. 10.1002/ajmg.a.33959

By:

Izumi, Kosuke;
Hahn, Amanda;
Christ, Laurie;
Curtis, Christine;
Neilson, Derek E

Publication type:

Article

Anatomic and etiological classification of congenital limb deficiencies.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1225, doi. 10.1002/ajmg.a.33999

By:

Gold, Nina B.;
Westgate, Marie-Noel;
Holmes, Lewis B.

Publication type:

Article

Noninvasive prenatal tests for Down syndrome are near.

Published in:: 2011
Publication type:: Other

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1453, doi. 10.1002/ajmg.a.34034

By:

Banka, Siddharth;
Fitzgibbon, Gregory J.;
Gaunt, Lorraine;
Rankin, Wendy J.;
Clayton-Smith, Jill

Publication type:

Article

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1272, doi. 10.1002/ajmg.a.33878

By:

Shinawi, Marwan;
Sahoo, Trilochan;
Maranda, Bruno;
Skinner, S.A.;
Skinner, Cindy;
Chinault, Craig;
Zascavage, Roxanne;
Peters, Sarika U.;
Patel, Ankita;
Stevenson, Roger E.;
Beaudet, Arthur L.

Publication type:

Article

Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1236, doi. 10.1002/ajmg.a.34009

By:

Akawi, Nadia A.;
Ali, Bassam R.;
Hamamy, Hanan;
Al-Hadidy, Azmy;
Al-Gazali, Lihadh

Publication type:

Article

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1336, doi. 10.1002/ajmg.a.34049

By:

Burkardt, Deepika D'Cunha;
Rosenfeld, Jill A.;
Helgeson, Maria L.;
Angle, Brad;
Banks, Valerie;
Smith, Wendy E.;
Gripp, Karen W.;
Moline, Jessica;
Moran, Rocio T.;
Niyazov, Dmitriy M.;
Stevens, Cathy A.;
Zackai, Elaine;
Lebel, Robert Roger;
Ashley, Douglas G.;
Kramer, Nancy;
Lachman, Ralph S.;
Graham, John M.

Publication type:

Article

Extending the phenotype of lethal skeletal dysplasia type al Gazali.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1404, doi. 10.1002/ajmg.a.33990

By:

Grigelioniene, Giedre;
Papadogiannakis, Nikos;
Conner, Peter;
Geiberger, Stefan;
Nishikawa, Masanori;
Nakayama, Masahiro

Publication type:

Article

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1390, doi. 10.1002/ajmg.a.33961

By:

Said, Edith;
Cuschieri, Alfred;
Vermeesch, Joris;
Fryns, Jean Pierre

Publication type:

Article

GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1281, doi. 10.1002/ajmg.a.33932

By:

Kaya, Namik;
Owain, Mohammad Al-;
AbuDheim, Nada;
Zahrani, Jawaher Al-;
Colak, Dilek;
Sayed, Moeen Al-;
Milanlioglu, Aysel;
Ozand, Pinar T.;
Alkuraya, Fowzan S.

Publication type:

Article

In this issue.

Published in:: 2011
Publication type:: Other

Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1322, doi. 10.1002/ajmg.a.33994

By:

Toiviainen-Salo, Sanna;
Linnankivi, Tarja;
Saarinen, Anne;
Mäyränpää, Mervi K.;
Karikoski, Riitta;
Mäkitie, Outi

Publication type:

Article

Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1432, doi. 10.1002/ajmg.a.34011

By:

Kantaputra, Piranit N.;
Malaivijitnond, Sutti;
Vieira, Alexandre R.;
Heering, Jan;
Dötsch, Volker;
Khankasikum, Theerapong;
Sripathomsawat, Warissara

Publication type:

Article

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1217, doi. 10.1002/ajmg.a.33987

By:

Ekvall, Sara;
Hagenäs, Lars;
Allanson, Judith;
Annerén, Göran;
Bondeson, Marie-Louise

Publication type:

Article

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1414, doi. 10.1002/ajmg.a.33998

By:

Parker, Michael J.;
Deshpande, Charulata;
Rankin, Julia;
Wilson, Louise C.;
Balasubramanian, Meena;
Hall, Christine M.;
Wagner, Bart E.;
Pollitt, Rebecca;
Dalton, Ann;
Bishop, Nicholas J.

Publication type:

Article

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1442, doi. 10.1002/ajmg.a.34015

By:

Campbell, Ian M.;
Kolodziejska, Katarzyna E.;
Quach, Michael M.;
Wolf, Varina Louise;
Cheung, Sau Wai;
Lalani, Seema R.;
Ramocki, Melissa B.;
Stankiewicz, Pawel

Publication type:

Article

Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1458, doi. 10.1002/ajmg.a.34048

By:

Isidor, Bertrand;
Barbarot, Sébastien;
Bénéteau, Claire;
Le Caignec, Cédric;
David, Albert

Publication type:

Article

Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1264, doi. 10.1002/ajmg.a.33583

By:

Swamy, Geeta K.;
Garrett, Melanie E.;
Miranda, Marie Lynn;
Ashley-Koch, Allison E.

Publication type:

Article

Age related change in social behavior in children with Angelman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1290, doi. 10.1002/ajmg.a.33964

By:

Adams, Dawn;
Horsler, Kate;
Oliver, Chris

Publication type:

Article

Table of Contents, Volume 155, Number 6, June 2011.

Published in:: 2011
Publication type:: Other

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1465, doi. 10.1002/ajmg.a.33935

By:

Breman, Amy M.;
Probst, Frank J.;
Blazo, Maria A.;
Schaaf, Christian P.;
Roney, Erin K.;
Craigen, William J.;
Bacino, Carlos A.;
Cheung, Sau Wai

Publication type:

Article

A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1425, doi. 10.1002/ajmg.a.34010

By:

Villa, Nicoletta;
Bentivegna, Angela;
Ertel, Adam;
Redaelli, Serena;
Colombo, Carla;
Nacinovich, Renata;
Broggi, Fiorenza;
Lissoni, Sara;
Bungaro, Silvia;
Addya, Sankar;
Fortina, Paolo;
Dalprà, Leda

Publication type:

Article

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: An association with Hunter-McAlpine syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1409, doi. 10.1002/ajmg.a.33997

By:

Sellars, Elizabeth A.;
Zimmerman, Sarah L.;
Smolarek, Teresa;
Hopkin, Robert J.

Publication type:

Article

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1352, doi. 10.1002/ajmg.a.33894

By:

Spencer, Emily;
Davis, Julia;
Mikhail, Fady;
Fu, Chuanhua;
Vijzelaar, Raymon;
Zackai, Elaine H;
Feret, Holly;
Meyn, M Stephen;
Shugar, Andrea;
Bellus, Gary;
Kocsis, Kristina;
Kivirikko, Sirpa;
Pöyhönen, Minna;
Messiaen, Ludwine

Publication type:

Article

Cancer predisposition in children with Kabuki syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1504, doi. 10.1002/ajmg.a.33711

By:

Casanova, Michela;
Selicorni, Angelo;
Ferrari, Andrea

Publication type:

Article

Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1492, doi. 10.1002/ajmg.a.34003

By:

Barnett, Christopher P.;
Dugar, Manish;
Haan, Eric A.

Publication type:

Article

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1448, doi. 10.1002/ajmg.a.34025

By:

Shaheen, Ranad;
Al-Owain, Mohammed;
Faqeih, Eissa;
Al-Hashmi, Nadia;
Awaji, Ali;
Al-Zayed, Zayed;
Alkuraya, Fowzan S

Publication type:

Article

Balanced information about Down syndrome: What is essential?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1246, doi. 10.1002/ajmg.a.34018

By:

Sheets, Kathryn B.;
Best, Robert G.;
Brasington, Campbell K.;
Will, Madeleine C.

Publication type:

Article

Craniorachischisis and omphalocele in a stillborn cynomolgus monkey ( Macaca fascicularis).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1367, doi. 10.1002/ajmg.a.33627

By:

Moore, Charleen M.;
Dick, Edward J.;
Hubbard, Gene B.;
Gardner, Stephanie M.;
Dunn, Betty G.;
Brothman, Arthur R.;
Williams, Vick;
Prajapati, Suresh I.;
Keller, Charles;
Davis, Michael D.

Publication type:

Article

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970

By:

Rendtorff, Nanna D.;
Lodahl, Marianne;
Boulahbel, Houda;
Johansen, Ida R.;
Pandya, Arti;
Welch, Katherine O.;
Norris, Virginia W.;
Arnos, Kathleen S.;
Bitner-Glindzicz, Maria;
Emery, Sarah B.;
Mets, Marilyn B.;
Fagerheim, Toril;
Eriksson, Kristina;
Hansen, Lars;
Bruhn, Helene;
Möller, Claes;
Lindholm, Sture;
Ensgaard, Stefan;
Lesperance, Marci M.;
Tranebjaerg, Lisbeth

Publication type:

Article

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1476, doi. 10.1002/ajmg.a.33981

By:

Manolakos, Emmanouil;
Vetro, Annalisa;
Kefalas, Konstantinos;
Thomaidis, Loretta;
Aperis, Georgios;
Sotiriou, Sotirios;
Kitsos, George;
Merkas, Martina;
Sifakis, Stavros;
Papoulidis, Ioannis;
Liehr, Thomas;
Zuffardi, Orsetta;
Petersen, Michael B.

Publication type:

Article

Book review.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1503, doi. 10.1002/ajmg.a.33912

By:

Cohen Jr., M. Michael

Publication type:

Article

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1285, doi. 10.1002/ajmg.a.33963

By:

Lin, Dar-Shong;
Yeung, Chun-Yan;
Liu, Hsuan-Liang;
Ho, Che-Sheng;
Shu, Chyong-Hsin;
Chuang, Chih-Kuang;
Huang, Yu-Wen;
Wu, Tsu-Yen;
Huang, Zon-Darr;
Jian, Yuan-Ren;
Lin, Shuan-Pei

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 155, Number 6, June 2011.

Published in:: 2011
Publication type:: Other

Lethal presentation of neurofibromatosis and Noonan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1360, doi. 10.1002/ajmg.a.33996

By:

Prada, Carlos E.;
Zarate, Yuri A.;
Hagenbuch, Sean;
Lovell, Anne;
Schorry, Elizabeth K.;
Hopkin, Robert J.

Publication type:

Article

High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1329, doi. 10.1002/ajmg.a.34013

By:

Kwon, Jeong-Yi;
Ko, Kiljun;
Sohn, Young Bae;
Kim, Su Jin;
Park, Sung Won;
Kim, Se-Hwa;
Cho, Sung-Yoon;
Jin, Dong-Kyu

Publication type:

Article

Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1483, doi. 10.1002/ajmg.a.33989

By:

Bertola, Debora;
Aguena, Meire;
Yamamoto, Guilherme;
Ae Kim, Chong;
Passos-Bueno, Maria Rita

Publication type:

Article

Coming soon: NIH genetic test registry.

Published in:: 2011
Publication type:: Other

A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1496, doi. 10.1002/ajmg.a.34006

By:

Derbent, Murat;
Bıkmaz, Yunus Emre;
Agildere, Muhtesem

Publication type:

Article

A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1500, doi. 10.1002/ajmg.a.34017

By:

Baert-Desurmont, Stéphanie;
Piton, Nicolas;
Bou, Jacqueline;
Tinat, Julie;
Guimbaud, Rosine;
Selves, Janick;
Frébourg, Thierry

Publication type:

Article

Understanding physicians' attitudes toward people with Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1258, doi. 10.1002/ajmg.a.34039

By:

Pace, Jill E.;
Shin, Mikyong;
Rasmussen, Sonja A.

Publication type:

Article

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1374, doi. 10.1002/ajmg.a.33769

By:

Zhang, Han;
Lu, Xianglan;
Beasley, Julie;
Mulvihill, John J;
Liu, Ruizhi;
Li, Shibo;
Lee, Ji-Yun

Publication type:

Article