Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 11

Results: 43

Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2808, doi. 10.1002/ajmg.a.36762

By:

Beck, Anita E.;
McMillin, Margaret J.;
Gildersleeve, Heidi I. S.;
Shively, Kathryn M. B.;
Tang, Andy;
Bamshad, Michael J.

Publication type:

Article

What parents want to know about the storage and use of residual newborn bloodspots.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2739, doi. 10.1002/ajmg.a.36694

By:

Botkin, Jeffrey R.;
Rothwell, Erin;
Anderson, Rebecca A.;
Goldenberg, Aaron;
Kuppermann, Miriam;
Dolan, Siobhan M.;
Rose, Nancy C.;
Stark, Louisa

Publication type:

Article

Long term follow-up of four patients with Keutel syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2849, doi. 10.1002/ajmg.a.36699

By:

Khosroshahi, H.E.;
Sahin, S.C.;
Akyuz, Y.;
Ede, H.

Publication type:

Article

The extraordinary career of Professor Dr. Simon van Creveld.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2689, doi. 10.1002/ajmg.a.36334

By:

Stoelinga, Paul J. W.;
Berdon, Walter E.;
Cohen, M. Michael

Publication type:

Article

Central 22q11.2 deletions.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36711

By:

Rump, Patrick;
de Leeuw, Nicole;
van Essen, Anthonie J.;
Verschuuren‐Bemelmans, Corien C.;
Veenstra‐Knol, Hermine E.;
Swinkels, Mariëlle E.M.;
Oostdijk, Wilma;
Ruivenkamp, Claudia;
Reardon, Willie;
de Munnik, Sonja;
Ruiter, Mariken;
Frumkin, Ayala;
Lev, Dorit;
Evers, Christina;
Sikkema‐Raddatz, Birgit;
Dijkhuizen, Trijnie;
van Ravenswaaij‐Arts, Conny M.

Publication type:

Article

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2958, doi. 10.1002/ajmg.a.36712

By:

Seoighe, Deirdre Máire;
Gadancheva, Veselina;
Regan, Regina;
McDaid, Jennifer;
Brenner, Clare;
Ennis, Sean;
Betts, David Richard;
Eadie, Patricia Anne;
Lynch, Sally Ann

Publication type:

Article

Ocular pterygium-Digital keloid dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2901, doi. 10.1002/ajmg.a.36713

By:

Abarca, Hugo;
Mellgren, Anne E Christensen;
Trubnykova, Milana;
Haugen, Olav H.;
Høvding, Gunnar;
Tveit, Kåre Steinar;
Houge, Gunnar;
Bredrup, Cecilie;
Hennekam, Raoul C

Publication type:

Article

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2914, doi. 10.1002/ajmg.a.36714

By:

Srivastava, Siddharth;
Cohen, Julie;
Pevsner, Jonathan;
Aradhya, Swaroop;
McKnight, Dianalee;
Butler, Elizabeth;
Johnston, Michael;
Fatemi, Ali

Publication type:

Article

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2964, doi. 10.1002/ajmg.a.36715

By:

Pebrel‐Richard, Celine;
Rouzade, Charles;
Kemeny, Stephan;
Eymard‐Pierre, Eleonore;
Gay‐Bellile, Mathilde;
Gouas, Laetitia;
Tchirkov, Andreï;
Goumy, Carole;
Vago, Philippe

Publication type:

Article

Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2908, doi. 10.1002/ajmg.a.36716

By:

Andrade, Raissa Coelho;
Nevado, Julián;
de Faria Domingues de Lima, Maria Angélica;
Saad, Tânia;
Moraes, Lucia;
Chimelli, Leila;
Lapunzina, Pablo;
Vargas, Fernando Regla

Publication type:

Article

Arterial tortuosity in patients with Filamin A- associated vascular aneurysms.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2961, doi. 10.1002/ajmg.a.36717

By:

Reinstein, Eyal;
Morris, Shaine A.;
Rimoin, David L.;
Robertson, Stephen P.;
Lacro, Ronald V.

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 164A, Number 11, November 2014.

Published in:: 2014
Publication type:: Other

Table of Contents, Volume 164A, Number 11, November 2014.

Published in:: 2014
Publication type:: Other

Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2775, doi. 10.1002/ajmg.a.36731

By:

Hall, Judith G.

Publication type:

Article

A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2863, doi. 10.1002/ajmg.a.36700

By:

Moghadasi, Setareh;
van Haeringen, Arie;
Langendonck, Lieke;
Gijsbers, Antoinet C. J.;
Ruivenkamp, Claudia A. L.

Publication type:

Article

A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2802, doi. 10.1002/ajmg.a.36736

By:

Sargent, Carole;
Bauer, Julien;
Khalil, Muhamed;
Filmore, Parker;
Bernas, Michael;
Witte, Marlys;
Pearson, M. Peggy;
Erickson, Robert P

Publication type:

Article

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2814, doi. 10.1002/ajmg.a.36737

By:

Myers, Angela;
Bernstein, Jonathan A.;
Brennan, Marie‐Luise;
Curry, Cynthia;
Esplin, Edward D.;
Fisher, Jamie;
Homeyer, Margaret;
Manning, Melanie A.;
Muller, Eric A.;
Niemi, Anna‐Kaisa;
Seaver, Laurie H.;
Hintz, Susan R.;
Hudgins, Louanne

Publication type:

Article

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2843, doi. 10.1002/ajmg.a.36680

By:

Snijders Blok, Charlotte;
Corsten‐Janssen, Nicole;
FitzPatrick, David R.;
Romano, Corrado;
Fichera, Marco;
Vitello, Girolamo Aurelio;
Willemsen, Marjolein H.;
Schoots, Jeroen;
Pfundt, Rolph;
van Ravenswaaij‐Arts, Conny M.A.;
Hoefsloot, Lies;
Kleefstra, Tjitske

Publication type:

Article

Effect of lovastatin on behavior in children and adults with fragile X syndrome: An open-label study.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2834, doi. 10.1002/ajmg.a.36750

By:

Çaku, Artuela;
Pellerin, David;
Bouvier, Paméla;
Riou, Emilie;
Corbin, Francois

Publication type:

Article

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2793, doi. 10.1002/ajmg.a.36735

By:

Bidchol, Abdul Mueed;
Dalal, Ashwin;
Shah, Hitesh;
S, Suryanarayana;
Nampoothiri, Sheela;
Kabra, Madhulika;
Gupta, Neerja;
Danda, Sumita;
Gowrishankar, Kalpana;
Phadke, Shubha R.;
Kapoor, Seema;
Kamate, Mahesh;
Verma, I.C.;
Puri, Ratna Dua;
Sankar, V.H.;
Devi, A. Radha Rama;
Patil, S.J.;
Ranganath, Prajnya;
Jain, S. Jamal Md Nurul;
Agarwal, Meenal

Publication type:

Article

Neural tube defects and atypical deletion on 22q11.2.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2701, doi. 10.1002/ajmg.a.36701

By:

Leoni, Chiara;
Stevenson, David A.;
Geiersbach, Katherine B.;
Paxton, Christian N.;
Krock, Bryan L.;
Mao, Rong;
Rope, Alan F.

Publication type:

Article

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2857, doi. 10.1002/ajmg.a.36702

By:

Patil, Siddaramappa J.;
Rai, Gaurava Kumar;
Bhat, Venkatraman;
Ramesh, Vakkalagadda A.;
Nagarajaram, H.A.;
Matalia, Jyoti;
Phadke, Shubha R.

Publication type:

Article

A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2732, doi. 10.1002/ajmg.a.36703

By:

Mohan, Rajiv A.;
van Engelen, Klaartje;
Stefanovic, Sonia;
Barnett, Phil;
Ilgun, Aho;
Baars, Marieke J.H.;
Bouma, Berto J.;
Mulder, Barbara J.M.;
Christoffels, Vincent M.;
Postma, Alex V.

Publication type:

Article

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2873, doi. 10.1002/ajmg.a.36704

By:

Kuroda, Yukiko;
Ohashi, Ikuko;
Saito, Toshiyuki;
Nagai, Jun‐Ichi;
Ida, Kazumi;
Naruto, Takuya;
Wada, Takahito;
Kurosawa, Kenji

Publication type:

Article

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2869, doi. 10.1002/ajmg.a.36705

By:

Takenouchi, Toshiki;
Sakamoto, Yoshiaki;
Miwa, Tomoru;
Torii, Chiharu;
Kosaki, Rika;
Kishi, Kazuo;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2745, doi. 10.1002/ajmg.a.36706

By:

Bergner, Amanda L.;
Bollinger, Juli;
Raraigh, Karen S.;
Tichnell, Crystal;
Murray, Brittney;
Blout, Carrie Lynn;
Telegrafi, Aida Bytyci;
James, Cynthia A.

Publication type:

Article

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2879, doi. 10.1002/ajmg.a.36707

By:

Mirzaa, Ghayda M.;
Enyedi, Laura;
Parsons, Gretchen;
Collins, Sarah;
Medne, Livija;
Adams, Carissa;
Ward, Thomas;
Davitt, Bradley;
Bicknese, Alma;
Zackai, Elaine;
Toriello, Helga;
Dobyns, William B.;
Christian, Susan

Publication type:

Article

Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2887, doi. 10.1002/ajmg.a.36708

By:

Mooneyham, Kathryn Anne;
Holden, Kenton R.;
Cathey, Sara;
Dwivedi, Alka;
Dupont, Barbara R.;
Lyons, Michael J.

Publication type:

Article

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2892, doi. 10.1002/ajmg.a.36709

By:

Shehata, Laila;
Simeonov, Dimitre R.;
Raams, Anja;
Wolfe, Lynne;
Vanderver, Adeline;
Li, Xueli;
Huang, Yan;
Garner, Shannon;
Boerkoel, Cornelius F.;
Thurm, Audrey;
Herman, Gail E.;
Tifft, Cynthia J.;
He, Miao;
Jaspers, Nicolaas G.J.;
Gahl, William A.

Publication type:

Article

Fetal phenotype associated with the 22q11 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2724, doi. 10.1002/ajmg.a.36720

By:

Noël, Anne‐Claire;
Pelluard, Fanny;
Delezoide, Anne‐Lise;
Devisme, Louise;
Loeuillet, Laurence;
Leroy, Brigitte;
Martin, Alain;
Bouvier, Raymonde;
Laquerriere, Annie;
Jeanne‐Pasquier, Corinne;
Bessieres‐Grattagliano, Betty;
Mechler, Charlotte;
Alanio, Elisabeth;
Leroy, Camille;
Gaillard, Dominique

Publication type:

Article

Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2931, doi. 10.1002/ajmg.a.36721

By:

Pekkarinen, Tuula;
Lorenz‐Depiereux, Bettina;
Lohman, Martina;
Mäkitie, Outi

Publication type:

Article

Further evidence of the importance of RIT1 in Noonan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2952, doi. 10.1002/ajmg.a.36722

By:

Bertola, Débora R.;
Yamamoto, Guilherme L.;
Almeida, Tatiana F.;
Buscarilli, Michelle;
Jorge, Alexander A. L.;
Malaquias, Alexsandra C.;
Kim, Chong A.;
Takahashi, Vanessa N. V.;
Passos‐Bueno, Maria Rita;
Pereira, Alexandre C.

Publication type:

Article

NDST1 missense mutations in autosomal recessive intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2753, doi. 10.1002/ajmg.a.36723

By:

Reuter, Miriam S.;
Musante, Luciana;
Hu, Hao;
Diederich, Stefan;
Sticht, Heinrich;
Ekici, Arif B.;
Uebe, Steffen;
Wienker, Thomas F.;
Bartsch, Oliver;
Zechner, Ulrich;
Oppitz, Cornelia;
Keleman, Krystyna;
Jamra, Rami Abou;
Najmabadi, Hossein;
Schweiger, Susann;
Reis, André;
Kahrizi, Kimia

Publication type:

Article

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2764, doi. 10.1002/ajmg.a.36724

By:

Bunyan, David J.;
Taylor, Emma‐Jane;
Maloney, Vivienne K.;
Blyth, Moira

Publication type:

Article

Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2922, doi. 10.1002/ajmg.a.36725

By:

Mancuso, Michelangelo;
Nesti, Claudia;
Ienco, Elena Caldarazzo;
Orsucci, Daniele;
Pizzanelli, Chiara;
Chiti, Alberto;
Giorgi, Filippo S;
Meschini, Maria Chiara;
Fontanini, Gabriella;
Santorelli, Filippo Maria;
Logerfo, Annalisa;
Romano, Alessandro;
Siciliano, Gabriele;
Bonuccelli, Ubaldo

Publication type:

Article

Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2926, doi. 10.1002/ajmg.a.36726

By:

Haye, Damien;
Collet, Corinne;
Sembely‐Taveau, Catherine;
Haddad, Georges;
Denis, Christelle;
Soulé, Nathalie;
Suc, Annie‐Laure;
Listrat, Antoine;
Toutain, Annick

Publication type:

Article

Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2947, doi. 10.1002/ajmg.a.36727

By:

Aslan, Deniz;
Akata, Rustu Fikret;
Schröder, Julia;
Happle, Rudolf;
Moog, Ute;
Bartsch, Oliver

Publication type:

Article

Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2769, doi. 10.1002/ajmg.a.36728

By:

Imbornoni, Lauren;
Price, Elinora T.;
Andrews, Jennifer;
Meaney, F. John;
Ciafaloni, Emma;
Cunniff, Christopher

Publication type:

Article

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2938, doi. 10.1002/ajmg.a.36729

By:

Pedace, Lucia;
Laino, Luigi;
Preziosi, Nicoletta;
Valentini, Maria Stella;
Scommegna, Salvatore;
Rapone, Anna Maria;
Guarino, Nino;
Boscherini, Brunetto;
De Bernardo, Carmelilia;
Marrocco, Giacinto;
Majore, Silvia;
Grammatico, Paola

Publication type:

Article

An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2822, doi. 10.1002/ajmg.a.36749

By:

Steel, Emma J.;
Hodgson, Jan;
Stirling, Lesley;
White, Susan M.

Publication type:

Article

Common genetic variants linked with large percentage of autism risk.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. vii, doi. 10.1002/ajmg.a.36817
Publication type:: Article

Somatic mosaicism in parents may cause single-gene disorders in children.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. viii, doi. 10.1002/ajmg.a.36818
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. x, doi. 10.1002/ajmg.a.36819
Publication type:: Article