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