Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 2

Results: 33

Cholesterol levels in Fragile X syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 379, doi. 10.1002/ajmg.a.36850

By:

Berry‐Kravis, Elizabeth;
Levin, Rebecca;
Shah, Haroon;
Mathur, Shaguna;
Darnell, Jennifer C.;
Ouyang, Bichun

Publication type:

Article

Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 282, doi. 10.1002/ajmg.a.36851

By:

Chacon‐Camacho, Oscar F.;
Villegas‐Ruiz, Vanessa;
Buentello‐Volante, Beatriz;
Piña‐Aguilar, Raul E.;
Peláez‐González, Hugo;
Ramírez, Magdalena;
González‐Rodríguez, Johanna;
Zenteno, Juan Carlos

Publication type:

Article

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 421, doi. 10.1002/ajmg.a.36852

By:

Saari, Jonathan;
Lovell, Mark A.;
Yu, Hung‐Chun;
Bellus, Gary A.

Publication type:

Article

Menkes disease in affected females: The clinical disease spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 417, doi. 10.1002/ajmg.a.36853

By:

Smpokou, Patroula;
Samanta, Monisha;
Berry, Gerard T.;
Hecht, Leah;
Engle, Elizabeth C.;
Lichter‐Konecki, Uta

Publication type:

Article

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 428, doi. 10.1002/ajmg.a.36857

By:

Lévy, Jonathan;
Receveur, Aline;
Jedraszak, Guillaume;
Chantot‐Bastaraud, Sandra;
Renaldo, Florence;
Gondry, Jean;
Andrieux, Joris;
Copin, Henri;
Siffroi, Jean‐Pierre;
Portnoï, Marie‐France

Publication type:

Article

Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 434, doi. 10.1002/ajmg.a.36858

By:

Mobeireek, Abdullah;
Saleemi, Sarfraz;
Khalid, Mohammad;
Imtiaz, Faiqa;
Almutairy, Eid A.

Publication type:

Article

Aortopathy in the 7q11.23 microduplication syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 363, doi. 10.1002/ajmg.a.36859

By:

Parrott, Ashley;
James, Jeanne;
Goldenberg, Paula;
Hinton, Robert B.;
Miller, Erin;
Shikany, Amy;
Aylsworth, Arthur S.;
Kaiser‐Rogers, Kathleen;
Ferns, Sunita J.;
Lalani, Seema R.;
Ware, Stephanie M.

Publication type:

Article

Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 385, doi. 10.1002/ajmg.a.36429

By:

Karaer, Kadri;
Lissewski, Christina;
Zenker, Martin

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 167A, Number 2, February 2015.

Published in:: 2015
Publication type:: Other

Table of Contents, Volume 167A, Number 02, February 2015.

Published in:: 2015
Publication type:: Other

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 354, doi. 10.1002/ajmg.a.36871

By:

Urbanowicz, Anna;
Downs, Jenny;
Girdler, Sonya;
Ciccone, Natalie;
Leonard, Helen

Publication type:

Article

Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 438, doi. 10.1002/ajmg.a.36872

By:

Palumbo, Orazio;
Palumbo, Pietro;
Delvecchio, Maurizio;
Palladino, Teresa;
Stallone, Raffaella;
Crisetti, Matteo;
Zelante, Leopoldo;
Carella, Massimo

Publication type:

Article

Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 445, doi. 10.1002/ajmg.a.36874

By:

Myśliwiec, Marta;
Panasiuk, Barbara;
Dębiec‐Rychter, Maria;
Iwanowski, Piotr Sebastian;
Łebkowska, Urszula;
Nowakowska, Beata;
Marcinkowska, Anna;
Stankiewicz, Pawel;
Midro, Alina T.

Publication type:

Article

Prenatal genetic counseling in Klinefelter syndrome: Comments on the article by Lalatta et al. [2013] and a proposal of a new approach.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 450, doi. 10.1002/ajmg.a.36875

By:

Pimpolari, Leonardo;
Liberati, Natascia;
Martini, Michela;
Colloridi, Fiorenza;
Radicioni, Antonio;
Duse, Marzia;
Tarani, Luigi

Publication type:

Article

Whole-exome sequencing effective at diagnosing elusive genetic disorders.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. vii, doi. 10.1002/ajmg.a.36965
Publication type:: Article

FDA proposes tighter regulation over genetic lab tests.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. viii, doi. 10.1002/ajmg.a.36966
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. x, doi. 10.1002/ajmg.a.36967
Publication type:: Article

Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 403, doi. 10.1002/ajmg.a.36841

By:

Guerin, Andrea;
So, Joyce;
Mireskandari, Kamiar;
Jougeh‐Doust, Soghra;
Chisholm, Caitlin;
Klatt, Regan;
Richer, Julie

Publication type:

Article

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 407, doi. 10.1002/ajmg.a.36842

By:

Nishi, Eriko;
Mizuno, Seiji;
Nanjo, Yuka;
Niihori, Tetsuya;
Fukushima, Yoshimitsu;
Matsubara, Yoichi;
Aoki, Yoko;
Kosho, Tomoki

Publication type:

Article

Unusual isochromosome 5p marker chromosome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 455, doi. 10.1002/ajmg.a.36843

By:

Roulet‐Coudrier, Fanny;
Rouibi, Amine;
Thuillier, Clotilde;
Bourthoumieu, Sylvie;
Lebbar, Aziza;
Dupont, Jean‐Michel;
Yardin, Catherine

Publication type:

Article

Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 412, doi. 10.1002/ajmg.a.36844

By:

Marques, Felipe;
Heredia, Romina;
de Oliveira, Claudiner;
Cardoso, Maria Terezinha;
Mazzeu, Juliana;
Pogue, Robert

Publication type:

Article

A population-based profile of 160 Australians with Prader-Willi syndrome: Trends in diagnosis, birth prevalence and birth characteristics.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 371, doi. 10.1002/ajmg.a.36845

By:

Lionti, Tess;
Reid, Susan M.;
White, Susan M.;
Rowell, Margaret M.

Publication type:

Article

Medical genetics by G. Bradley Schaefer and James N. Thompson, Jr. (Jan 13, 2014) ISBN: 0071664386/9780071664387.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 460, doi. 10.1002/ajmg.a.36862

By:

Clericuzio, Carol L.

Publication type:

Article

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 271, doi. 10.1002/ajmg.a.36863

By:

Gripp, Karen W.;
Robbins, Katherine M.;
Sobreira, Nara L.;
Witmer, P. Dane;
Bird, Lynne M.;
Avela, Kristiina;
Makitie, Outi;
Alves, Daniela;
Hogue, Jacob S.;
Zackai, Elaine H.;
Doheny, Kimberly F.;
Stabley, Deborah L.;
Sol‐Church, Katia

Publication type:

Article

Angelman syndrome in adulthood.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 331, doi. 10.1002/ajmg.a.36864

By:

Larson, Anna M.;
Shinnick, Julianna E.;
Shaaya, Elias A.;
Thiele, Elizabeth A.;
Thibert, Ronald L.

Publication type:

Article

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 345, doi. 10.1002/ajmg.a.36866

By:

Rosenfeld, Jill A.;
Fox, Joyce E.;
Descartes, Maria;
Brewer, Fallon;
Stroud, Tracy;
Gorski, Jerome L.;
Upton, Sheila J.;
Moeschler, John B.;
Monteleone, Berrin;
Neill, Nicholas J.;
Lamb, Allen N.;
Ballif, Blake C.;
Shaffer, Lisa G.;
Ravnan, J. Britt

Publication type:

Article

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 389, doi. 10.1002/ajmg.a.36813

By:

Kuroda, Yukiko;
Saito, Toshiyuki;
Nagai, Jun‐Ichi;
Ida, Kazumi;
Naruto, Takuya;
Masuno, Mitsuo;
Kurosawa, Kenji

Publication type:

Article

Whole arm deletions of 18p: Medical and developmental effects.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 313, doi. 10.1002/ajmg.a.36880

By:

Sebold, Courtney;
Soileau, Bridgette;
Heard, Patricia;
Carter, Erika;
O'Donnell, Louise;
Hale, Daniel E.;
Cody, Jannine D.

Publication type:

Article

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 296, doi. 10.1002/ajmg.a.36887

By:

Crow, Yanick J.;
Chase, Diana S.;
Lowenstein Schmidt, Johanna;
Szynkiewicz, Marcin;
Forte, Gabriella M.A.;
Gornall, Hannah L.;
Oojageer, Anthony;
Anderson, Beverley;
Pizzino, Amy;
Helman, Guy;
Abdel‐Hamid, Mohamed S.;
Abdel‐Salam, Ghada M.;
Ackroyd, Sam;
Aeby, Alec;
Agosta, Guillermo;
Albin, Catherine;
Allon‐Shalev, Stavit;
Arellano, Montse;
Ariaudo, Giada;
Aswani, Vijay

Publication type:

Article

A new patient with LACHT syndrome (Mardini-Nyhan association).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 400, doi. 10.1002/ajmg.a.36832

By:

Atik, Tahir;
Torun, Huseyin Ozan;
Cogulu, Ozgur;
Ozkinay, Ferda

Publication type:

Article

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 287, doi. 10.1002/ajmg.a.36836

By:

Keppler‐Noreuil, Kim M.;
Rios, Jonathan J.;
Parker, Victoria E.R.;
Semple, Robert K.;
Lindhurst, Marjorie J.;
Sapp, Julie C.;
Alomari, Ahmad;
Ezaki, Marybeth;
Dobyns, William;
Biesecker, Leslie G.

Publication type:

Article

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 394, doi. 10.1002/ajmg.a.36838

By:

Bülow, Luzie;
Lissewski, Christina;
Bressel, Rainer;
Rauch, Anita;
Stark, Zornitza;
Zenker, Martin;
Bartsch, Oliver

Publication type:

Article

Obstructive sleep apnea in young infants with Down Syndrome evaluated in a Down Syndrome specialty clinic.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 324, doi. 10.1002/ajmg.a.36903

By:

Goffinski, Alida;
Stanley, Maria A.;
Shepherd, Nicole;
Duvall, Nichole;
Jenkinson, Sandra B.;
Davis, Charlene;
Bull, Marilyn J.;
Roper, Randall J.

Publication type:

Article