Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 8

Results: 54

The 'megalencephaly-capillary malformation' (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2115, doi. 10.1002/ajmg.a.35940
By:
- Mirzaa, Ghayda M.;
- Dobyns, William B.
Publication type:
Article
Another patient with 12q13 microduplication Another patient with 12q13 microduplication.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2004, doi. 10.1002/ajmg.a.35991
By:
- Bertoli, M.;
- Alesi, V.;
- Gullotta, F.;
- Zampatti, S.;
- Abate, M.R.;
- Palmieri, C.;
- Novelli, A.;
- Frontali, M.;
- Nardone, A. M.
Publication type:
Article
Book review.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2108, doi. 10.1002/ajmg.a.35995
By:
- Opitz, John M.
Publication type:
Article
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1915, doi. 10.1002/ajmg.a.36030
By:
- Püttmann, Lucia;
- Stehr, HENning;
- Garshasbi, Masoud;
- Hu, Hao;
- Kahrizi, Kimia;
- Lipkowitz, Bettina;
- Jamali, Payman;
- Tzschach, Andreas;
- Najmabadi, Hossein;
- Ropers, Hans ‐ Hilger;
- Musante, Luciana;
- Kuss, Andreas W.
Publication type:
Article
Table of Contents, Volume 161A, Number 8, August 2013.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. fm i, doi. 10.1002/ajmg.a.36144
Publication type:
Article
High MMP-9 activity levels in fragile X syndrome are lowered by minocycline.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1897, doi. 10.1002/ajmg.a.36023
By:
- Dziembowska, MagdalENa;
- Pretto, Dalyir I.;
- Janusz, Aleksandra;
- Kaczmarek, Leszek;
- Leigh, Mary JacENa;
- Gabriel, NielsEN;
- Durbin ‐ Johnson, Blythe;
- Hagerman, Randi J.;
- Tassone, Flora
Publication type:
Article
Supreme court strikes down certain gene patents.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. x, doi. 10.1002/ajmg.a.36137
Publication type:
Article
Dr. Peter Emil Becker and the Third Reich.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1983, doi. 10.1002/ajmg.a.36063
By:
- Hill, Frank
Publication type:
Article
Duplication of AKT 3 as a cause of macrocephaly in duplication 1q43q44.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2016, doi. 10.1002/ajmg.a.35999
By:
- Wang, David;
- Zeesman, Susan;
- Tarnopolsky, Mark A.;
- Nowaczyk, Małgorzata J.M.
Publication type:
Article
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1961, doi. 10.1002/ajmg.a.36074
By:
- Vernersson Lindahl, Emma;
- Garcia, Elvin L.;
- Mills, Alea A.
Publication type:
Article
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2027, doi. 10.1002/ajmg.a.36005
By:
- Rankin, Julia;
- Short, John;
- TurnpENny, Peter;
- Castle, Bruce;
- Hanemann, C. Oliver
Publication type:
Article
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1929, doi. 10.1002/ajmg.a.36045
By:
- Kalish, JENnifer M.;
- Conlin, Laura K.;
- Bhatti, Tricia R.;
- Dubbs, Holly A.;
- Harris, Mary Catherine;
- Izumi, Kosuke;
- Mostoufi ‐ Moab, Sogol;
- Mulchandani, Surabhi;
- Saitta, Sulagna;
- States, Lisa J.;
- Swarr, Daniel T.;
- WilkENs, Alisha B.;
- Zackai, Elaine H.;
- Zelley, Kristin;
- Bartolomei, Marisa S.;
- Nichols, Kim E.;
- Palladino, Andrew A.;
- Spinner, Nancy B.;
- Deardorff, Matthew A.
Publication type:
Article
A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2056, doi. 10.1002/ajmg.a.36016
By:
- Low, KarEN;
- Smith, James;
- Lee, Simon;
- Newbury ‐ Ecob, Ruth
Publication type:
Article
A mutation in TGFB 3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys-dietz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2040, doi. 10.1002/ajmg.a.36056
By:
- RiENhoff, Hugh Young;
- Yeo, Chang ‐ Yeol;
- Morissette, Rachel;
- Khrebtukova, Irina;
- Melnick, Jonathan;
- Luo, Shujun;
- LENg, Nan;
- Kim, Yeon ‐ Jin;
- Schroth, Gary;
- Westwick, John;
- Vogel, Hannes;
- McDonnell, Nazli;
- Hall, Judith G.;
- Whitman, Malcolm
Publication type:
Article
Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2078, doi. 10.1002/ajmg.a.36027
By:
- Shimada, Shino;
- Okamoto, Nobuhiko;
- Nomura, Shohei;
- Fukui, Miho;
- Shimakawa, Shuichi;
- Sangu, Noriko;
- Shimojima, Keiko;
- Osawa, Makiko;
- Yamamoto, Toshiyuki
Publication type:
Article
Empirical research on the ethics of genomic research.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2099, doi. 10.1002/ajmg.a.36067
By:
- Middleton, Anna;
- Parker, Michael;
- Wright, Caroline F.;
- Bragin, Eugene;
- Hurles, Matthew E.
Publication type:
Article
Further delineation of the clinical spectrum in RNU 4 ATAC related microcephalic osteodysplastic primordial dwarfism type I.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1875, doi. 10.1002/ajmg.a.36009
By:
- Abdel ‐ Salam, Ghada M.H.;
- Abdel ‐ Hamid, Mohamed S.;
- Hassan, Nihal A.;
- Issa, Mahmoud Y.;
- Effat, Laila;
- Ismail, Samira;
- Aglan, Mona S.;
- Zaki, Maha S.
Publication type:
Article
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1853, doi. 10.1002/ajmg.a.35994
By:
- Bartholdi, Deborah;
- Asadollahi, Reza;
- Oneda, Beatrice;
- Schmitt ‐ Mechelke, Thomas;
- Tonella, Paolo;
- Baumer, Alessandra;
- Rauch, Anita
Publication type:
Article
American Journal of Medical Genetics Part A: Volume 161A, Number 8, August 2013.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. C1, doi. 10.1002/ajmg.a.36143
Publication type:
Article
Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2020, doi. 10.1002/ajmg.a.36000
By:
- Tarnopolsky, Mark;
- Meaney, Brandon;
- Robinson, Brian;
- Sheldon, Katherine;
- Boles, Richard G.
Publication type:
Article
Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2047, doi. 10.1002/ajmg.a.36011
By:
- Wilson, Brian T.;
- JENsEN, Sacha A.;
- McAnulty, Ciaron P.;
- BrENnan, Paul;
- Handford, PENny A.
Publication type:
Article
Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2110, doi. 10.1002/ajmg.a.35947
By:
- Schulze, Kerry J.;
- Alade, Yewande Adekemi;
- McGready, John;
- Hoover ‐ Fong, Julie E.
Publication type:
Article
Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1992, doi. 10.1002/ajmg.a.35918
By:
- Torti, Erin E.;
- Braddock, StephEN R.;
- Bernreuter, KristEN;
- Batanian, Jacqueline R.
Publication type:
Article
Camurati-engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2074, doi. 10.1002/ajmg.a.36022
By:
- Collet, Corinne;
- Laplanche, Jean ‐ Louis;
- de Vernejoul, Marie ‐ Christine
Publication type:
Article
Federal committee supports adding Pompe disease to screening panel.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. ix, doi. 10.1002/ajmg.a.36136
Publication type:
Article
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1985, doi. 10.1002/ajmg.a.35895
By:
- Quintero ‐ Rivera, Fabiola;
- Martinez ‐ Agosto, Julian A.
Publication type:
Article
Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2024, doi. 10.1002/ajmg.a.36004
By:
- Rojnueangnit, Kitiwan;
- Robin, Nathaniel H.
Publication type:
Article
Evaluating the frequency and characteristics of seizures in 142 Japanese patients with prader-willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2052, doi. 10.1002/ajmg.a.36015
By:
- Takeshita, Eri;
- Murakami, Nobuyuki;
- Sakuta, Ryoichi;
- Nagai, Toshiro
Publication type:
Article
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1904, doi. 10.1002/ajmg.a.36026
By:
- Fujita, Atsushi;
- Suzumura, Hiroshi;
- Nakashima, Mitsuko;
- Tsurusaki, Yoshinori;
- Saitsu, Hirotomo;
- Harada, Naoki;
- Matsumoto, Naomichi;
- Miyake, Noriko
Publication type:
Article
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2066, doi. 10.1002/ajmg.a.36019
By:
- Borovik, Lior;
- Modaff, Peggy;
- Waterham, Hans R.;
- KrENtz, Anthony D.;
- Pauli, Richard M.
Publication type:
Article
Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1950, doi. 10.1002/ajmg.a.35960
By:
- Vallespín, ElENa;
- Palomares Bralo, María;
- Mori, M. Ángeles;
- Martín, Rubén;
- García ‐ Miñaúr, Sixto;
- Fernández, Luis;
- de Torres, M. Luisa;
- García ‐ Santiago, Fe;
- Mansilla, ElENa;
- Santos, Fernando;
- M ‐ Montaño, Victoria E.;
- Crespo, M. CarmEN;
- Martín, Sol;
- Martínez ‐ Glez, Victor;
- Delicado, Alicia;
- Lapunzina, Pablo;
- Nevado, Julián
Publication type:
Article
Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2009, doi. 10.1002/ajmg.a.35993
By:
- Vignoli, Aglaia;
- Scornavacca, Giulia Federica;
- Peron, Angela;
- La Briola, Francesca;
- Canevini, Maria Paola
Publication type:
Article
Myoclonic epilepsy in a child with 17q22-q23.1 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2036, doi. 10.1002/ajmg.a.36010
By:
- Coppola, Antonietta;
- Tostevin, Anna;
- McTague, Amy;
- Pressler, Ronit M.;
- Cross, J. HelEN;
- Sisodiya, Sanjay M.
Publication type:
Article
Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1829, doi. 10.1002/ajmg.a.36021
By:
- Isidor, Bertrand;
- Le Meur, Guylène;
- Conti, Carole;
- Caldagues, Emmanuelle;
- Lainey, Elodie;
- Launay, Elise;
- Leclair, Marc David;
- Le Francois, Thomas;
- Pichon, Olivier;
- Boisseau, Pierre;
- Migraine, Audrey;
- KerEN, Boris;
- Caignec, Cédric Le;
- Crow, Yanick J;
- David, Albert
Publication type:
Article
Gene therapy shows potential as Usher syndrome treatment.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. xi, doi. 10.1002/ajmg.a.36175
Publication type:
Article
Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1923, doi. 10.1002/ajmg.a.36032
By:
- Matoso, Eunice;
- Melo, Joana B.;
- Ferreira, Susana I.;
- Jardim, Ana;
- Castelo, Teresa M.;
- Weise, Anja;
- Carreira, Isabel M.
Publication type:
Article
Risk terminology in biobanking and genetic research: What's in a name?
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2095, doi. 10.1002/ajmg.a.36069
By:
- Quinn, GwENdolyn P.;
- Castañeda, Heide;
- Pal, Tuya;
- Rice, Janique L.;
- Meade, Cathy D.;
- Gwede, ClemENt K.
Publication type:
Article
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2030, doi. 10.1002/ajmg.a.36007
By:
- Ballesta ‐ Martínez, Maria Juliana;
- López ‐ González, Vanesa;
- Dulcet, Lluis ArmENgol;
- Rodríguez ‐ Santiago, BENjamín;
- Garcia ‐ Miñaúr, Sixto;
- GuillEN ‐ Navarro, Encarna
Publication type:
Article
Orthopedic manifestations and implications for individuals with Costello syndrome Orthopedic manifestations and implications for individuals with Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1940, doi. 10.1002/ajmg.a.36047
By:
- Detweiler, Stacey;
- Thacker, Mihir M.;
- Hopkins, Elizabeth;
- Conway, Laura;
- Gripp, KarEN W.
Publication type:
Article
9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1882, doi. 10.1002/ajmg.a.36018
By:
- Quinonez, Shane C.;
- Park, John M.;
- Rabah, Raja;
- OwENs, Kailey M.;
- Yashar, Beverly M.;
- Glover, Thomas W.;
- Keegan, Catherine E.
Publication type:
Article
Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1910, doi. 10.1002/ajmg.a.36029
By:
- Tan, Eric W.;
- Offoha, Roosevelt U.;
- Oswald, GretchEN L.;
- Skolasky, Richard L.;
- Dewan, Ashvin K.;
- ZhEN, Gehua;
- Shapiro, Jay R.;
- Dietz, Harry C.;
- Cao, Xu;
- Sponseller, Paul D.
Publication type:
Article
A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1980, doi. 10.1002/ajmg.a.36025
By:
- Takagi, Masaki;
- Sato, Shuhei;
- Hara, Keiichi;
- Tani, Chihiro;
- Miyazaki, Osamu;
- Nishimura, Gen;
- Hasegawa, Tomonobu
Publication type:
Article
GAPO syndrome associated with vestibular dysfunction and hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2102, doi. 10.1002/ajmg.a.35992
By:
- Rapsomaniki, M.;
- Chiarella, G.;
- Mascaro, I.;
- Ceravolo, F.;
- Cassandro, E.;
- Strisciuglio, P.;
- Concolino, D.
Publication type:
Article
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1833, doi. 10.1002/ajmg.a.35996
By:
- Curry, Cynthia J.;
- RosENfeld, Jill A.;
- Grant, Erica;
- Gripp, KarEN W.;
- Anderson, Carol;
- Aylsworth, Arthur S.;
- Saad, Taha BEN;
- Chizhikov, Victor V.;
- Dybose, Giedre;
- Fagerberg, Christina;
- Falco, Michelle;
- Fels, Christina;
- Fichera, Marco;
- Graakjaer, Jesper;
- Greco, Donatella;
- Hair, JENnifer;
- Hopkins, Elizabeth;
- Huggins, MarlENe;
- Ladda, Roger;
- Li, Chumei
Publication type:
Article
Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2105, doi. 10.1002/ajmg.a.36031
By:
- Balikcioglu, Pinar Gumus;
- Gómez, Ricardo;
- Vargas, Alfonso;
- Aradhya, Swaroop;
- Messiaen, Ludwine M.;
- Lacassie, Yves
Publication type:
Article
Altered lipid metabolism in gastroschisis: A novel hypothesis.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1860, doi. 10.1002/ajmg.a.36002
By:
- Jones, KENneth Lyons;
- Weiss, LaurEN A.;
- Hagey, Lee R.;
- Gonzalez, Vanessa;
- BENirschke, Kurt;
- Chambers, Christina D.
Publication type:
Article
Richieri-costa and Pereira syndrome: Severe phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1999, doi. 10.1002/ajmg.a.35989
By:
- Raskin, Salmo;
- Souza, Marcela;
- Medeiros, Mariana C.;
- Manfron, Mayra;
- Chong e Silva, Debora C.
Publication type:
Article
Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1972, doi. 10.1002/ajmg.a.36024
By:
- Kim, Ok ‐ Hwa;
- Jin, Dong ‐ Kyu;
- Kosaki, Keisuke;
- Kim, Jung ‐ Wook;
- Cho, Sung Yoon;
- Yoo, Won Joon;
- Choi, In Ho;
- Nishimura, GEN;
- Ikegawa, Shiro;
- Cho, Tae ‐ Joon
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. xii, doi. 10.1002/ajmg.a.36138
Publication type:
Article
Non-trisomic homeobox gene expression during craniofacial development in the Ts65Dn mouse model of Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1866, doi. 10.1002/ajmg.a.36006
By:
- Billingsley, Cherie N.;
- AllEN, Jared R.;
- Baumann, Douglas D.;
- Deitz, Samantha L.;
- Blazek, Joshua D.;
- Newbauer, Abby;
- Darrah, Andrew;
- Long, Brad C.;
- Young, Brandon;
- ClemENt, Mark;
- Doerge, R.W.;
- Roper, Randall J.
Publication type:
Article