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