Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 5

Results: 38

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1100, doi. 10.1002/ajmg.a.36881

By:

Okubo, Mariko;
Fujita, Atsushi;
Saito, Yoshiaki;
Komaki, Hirofumi;
Ishiyama, Akihiko;
Takeshita, Eri;
Kojima, Emiko;
Koichihara, Reiko;
Saito, Takashi;
Nakagawa, Eiji;
Sugai, Kenji;
Yamazaki, Hiroko;
Kusaka, Kei;
Tanaka, Hiroshi;
Miyake, Noriko;
Matsumoto, Naomichi;
Sasaki, Masayuki

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 167A, Number 5, May 2015.

Published in:: 2015
Publication type:: Other

Table of Contents, Volume 167A, Number 5, May 2015.

Published in:: 2015
Publication type:: Other

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1089, doi. 10.1002/ajmg.a.37010

By:

Abdel‐Salam, Ghada M.H.;
Abdel‐Hamid, Mohamed S.;
El‐Khayat, Hamed A.;
Eid, Ola M.;
Saba, Soliman;
Farag, Mona K.;
Saleem, Sahar N.;
Gaber, Khaled R.

Publication type:

Article

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1111, doi. 10.1002/ajmg.a.36883

By:

Solomon, Benjamin D.;
Bodian, Dale L.;
Khromykh, Alina;
Mora, Gabriela Gomez;
Lanpher, Brendan C.;
Iyer, Ramaswamy K.;
Baveja, Rajiv;
Vockley, Joseph G.;
Niederhuber, John E.

Publication type:

Article

Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1033, doi. 10.1002/ajmg.a.36884

By:

Ko, Jung Min;
Bae, Jun‐Seok;
Choi, Jin Sun;
Miura, Kohji;
Lee, Hye Ran;
Kim, Ok‐Hwa;
Kim, Nayoung KD;
Oh, Sun Kyung;
Ozono, Keiichi;
Lee, Choon‐Ki;
Choi, In Ho;
Park, Woong‐Yang;
Cho, Tae‐Joon

Publication type:

Article

Cardiovascular malformations in Adams-Oliver syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1175, doi. 10.1002/ajmg.a.36764

By:

Digilio, M. Cristina;
Marino, Bruno;
Baban, Anwar;
Dallapiccola, Bruno

Publication type:

Article

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1047, doi. 10.1002/ajmg.a.36839

By:

Beck, Megan;
Peterson, Jess F.;
McConnell, Juliann;
McGuire, Marianne;
Asato, Miya;
Losee, Joseph E.;
Surti, Urvashi;
Madan‐Khetarpal, Suneeta;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.

Publication type:

Article

In Memoriam: S. Harvey Mudd.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 994, doi. 10.1002/ajmg.a.36904

By:

Blom, Henk J.;
Stabler, Sally;
Wagner, Conrad

Publication type:

Article

Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1178, doi. 10.1002/ajmg.a.36784

By:

van Dijk, Fleur S;
Sillence, David O

Publication type:

Article

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1039, doi. 10.1002/ajmg.a.36789

By:

Carvalho, Ellaine;
Honjo, Rachel;
Magalhães, Monize;
Yamamoto, Guilherme;
Rocha, Katia;
Naslavsky, Michel;
Zatz, Mayana;
Passos‐Bueno, Maria Rita;
Kim, Chong;
Bertola, Debora

Publication type:

Article

A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1117, doi. 10.1002/ajmg.a.36970

By:

Langley, Katherine G.;
Trau, Steven;
Bean, Lora J. H.;
Narravula, Alekhya;
Schrier Vergano, Samantha A.

Publication type:

Article

FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1125, doi. 10.1002/ajmg.a.36979

By:

Ding, Yibing;
Zhu, Chengchu;
Zou, Wei;
Ma, Dehua;
Min, Haiyan;
Chen, Baofu;
Ye, Minhua;
Pan, Yanqing;
Cao, Lei;
Wan, Yueming;
Zhang, Wenwen;
Meng, Lulu;
Mei, Yuna;
Yang, Chi;
Chen, Shilin;
Gao, Qian;
Yi, Long

Publication type:

Article

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1121, doi. 10.1002/ajmg.a.36972

By:

Kordaß, Ulrike;
Schröder, Carmen;
Elbracht, Miriam;
Soellner, Lukas;
Eggermann, Thomas

Publication type:

Article

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1061, doi. 10.1002/ajmg.a.36973

By:

Weaver, David D.;
Norby, Audrey R.;
Rosenfeld, Jill A.;
Proud, Virginia K.;
Spangler, Brooke E.;
Ming, Jeffrey E.;
Chisholm, Elizabeth;
Zackai, Elaine H.;
Lee, Beom Hee;
Edelmann, Lisa;
Desnick, Robert J.

Publication type:

Article

Twenty-five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 997, doi. 10.1002/ajmg.a.36977

By:

Bruns, Deborah A.;
Campbell, Emily

Publication type:

Article

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1134, doi. 10.1002/ajmg.a.36978

By:

McMahon, Colin J;
Breathnach, Colm;
Betts, David R;
Sharkey, Freddie H;
Greally, Marie T

Publication type:

Article

Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 974, doi. 10.1002/ajmg.a.36971

By:

Tvrdik, Tatiana;
Mason, Debbie;
Dent, Karin M;
Thornton, Lisa;
hornton, Sidney N;
Viskochil, David H;
Stevenson, David A

Publication type:

Article

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1008, doi. 10.1002/ajmg.a.36856

By:

Chatron, Nicolas;
Haddad, Véronique;
Andrieux, Joris;
Désir, Julie;
Boute, Odile;
Dieux, Anne;
Baumann, Clarisse;
Drunat, Séverine;
Gérard, Marion;
Bonnet, Céline;
Leheup, Bruno;
Till, Marianne;
Rossi, Massimiliano;
Flori, Elisabeth;
Alembik, Yves;
Stewart, Helen;
McParland, Joanna;
Bernardini, Laura;
Castelluccio, Pia;
Roos, Laura

Publication type:

Article

Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1152, doi. 10.1002/ajmg.a.37009

By:

Uhlmann, Wendy R.;
Peñaherrera, Maria S.;
Robinson, Wendy P.;
Milunsky, Jeff M.;
Nicholson, Jane M.;
Albin, Roger L.

Publication type:

Article

Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1165, doi. 10.1002/ajmg.a.36990

By:

Guala, Andrea;
Peruzzi, Cinzia;
Gennaro, Elena;
Pennese, Loredana;
Danesino, Cesare

Publication type:

Article

Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1168, doi. 10.1002/ajmg.a.36992

By:

Guala, Andrea;
Spunton, Marianna;
Mainardi, Paola Cerruti;
Emmig, Uta;
Acucella, Gabriela;
Danesino, Cesare

Publication type:

Article

Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1147, doi. 10.1002/ajmg.a.36993

By:

Vernon, Hilary J;
McClellan, Rebecca;
Batista, Denise AS;
Naidu, Sakkubai

Publication type:

Article

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1171, doi. 10.1002/ajmg.a.36996

By:

Nakamura, Yoshie;
Takagi, Masaki;
Yoshihashi, Hiroshi;
Miura, Masaru;
Narumi, Satoshi;
Hasegawa, Tomonobu;
Miyake, Yoshishige;
Hasegawa, Yukihiro

Publication type:

Article

Psychiatric disorders in children with Prader-Willi syndrome-Results of a 2-year longitudinal study.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 983, doi. 10.1002/ajmg.a.36998

By:

Lo, S.T.;
Collin, P.J.L.;
Hokken‐Koelega, A.C.S.

Publication type:

Article

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1018, doi. 10.1002/ajmg.a.36879

By:

García‐Santiago, Fe Amalia;
Martínez‐Glez, Víctor;
Santos, Fernando;
García‐Miñaur, Sixto;
Mansilla, Elena;
Meneses, Antonio González;
Rosell, Jordi;
Granero, Ángeles Pérez;
Vallespín, Elena;
Fernández, Luis;
Sierra, Blanca;
Oliver‐Bonet, María;
Palomares, María;
de Torres, María Luisa;
Mori, María Ángeles;
Nevado, Julián;
Heath, Karen E.;
Delicado, Alicia;
Lapunzina, Pablo

Publication type:

Article

A case study of brain morphometry in triplets discordant for Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1107, doi. 10.1002/ajmg.a.36820

By:

Adeyemi, Elizabeth I.;
Giedd, Jay N.;
Lee, Nancy Raitano

Publication type:

Article

Carlos F. Salinas, DMD (April 9, 1941-January 14, 2015).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 992, doi. 10.1002/ajmg.a.37025

By:

Lacassie, Yves

Publication type:

Article

Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1026, doi. 10.1002/ajmg.a.36849

By:

Zarate, Yuri A.;
Perry, Hazel;
Ben‐Omran, Tawfeg;
Sellars, Elizabeth A.;
Stein, Quinn;
Almureikhi, Mariam;
Simmons, Kirk;
Klein, Ophir;
Fish, Jennifer;
Feingold, Murray;
Douglas, Jessica;
Kruer, Michael C.;
Si, Yue;
Mao, Rong;
McKnight, Dianalee;
Gibellini, Federica;
Retterer, Kyle;
Slavotinek, Anne

Publication type:

Article

Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1054, doi. 10.1002/ajmg.a.36912

By:

Jia, Zhonglin;
Leslie, Elizabeth J.;
Cooper, Margaret E.;
Butali, Azeez;
Standley, Jennifer;
Rigdon, Jennifer;
Suzuki, Satoshi;
Gongorjav, Ayana;
Shonkhuuz, T. Enkhtur;
Natsume, Nagato;
Shi, Bing;
Marazita, Mary L.;
Murray, Jeffrey C.

Publication type:

Article

Federal plan to advance targeted disease treatment unclear on benefits for children with rare diseases.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. vii, doi. 10.1002/ajmg.a.37111

By:

Levenson, Deborah

Publication type:

Article

Autism in siblings often caused by different faulty genes, study says.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. ix, doi. 10.1002/ajmg.a.37112
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. x, doi. 10.1002/ajmg.a.37113
Publication type:: Article

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1161, doi. 10.1002/ajmg.a.36981

By:

Bertola, Debora;
Passos‐Bueno, Maria Rita;
Pereira, Alexandre;
Kim, Chong;
Morgan, Tim;
Robertson, Stephen P.

Publication type:

Article

Etiology of non-immune hydrops fetalis: An update.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1082, doi. 10.1002/ajmg.a.36988

By:

Bellini, Carlo;
Donarini, Gloria;
Paladini, Dario;
Calevo, Maria Grazia;
Bellini, Tommaso;
Ramenghi, Luca A;
Hennekam, Raoul C

Publication type:

Article

MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1142, doi. 10.1002/ajmg.a.36989

By:

Louw, Jacoba J.;
Corveleyn, Anniek;
Jia, Yaojuan;
Hens, Greet;
Gewillig, Marc;
Devriendt, Koenraad

Publication type:

Article

Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1071, doi. 10.1002/ajmg.a.36865

By:

Michalski, Adrian M.;
Richardson, Sandra D.;
Browne, Marilyn L.;
Carmichael, Suzan L.;
Canfield, Mark A.;
VanZutphen, Alissa R.;
Anderka, Marlene T.;
Marshall, Elizabeth G.;
Druschel, Charlotte M.

Publication type:

Article

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 931, doi. 10.1002/ajmg.a.36934

By:

Hunter, Jesse M.;
Kiefer, Jeff;
Balak, Christopher D.;
Jooma, Sonya;
Ahearn, Mary Ellen;
Hall, Judith G.;
Baumbach‐Reardon, Lisa

Publication type:

Article