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
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
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
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
American Journal of Medical Genetics Part A: Volume 167A, Number 2, February 2015.
Published in:
2015
Publication type:
Other
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
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