Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 6

Results: 43

Development of the human heart.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1347, doi. 10.1002/ajmg.a.35896
By:
- Sylva, Marc;
- van den Hoff, Maurice J.B.;
- Moorman, Antoon F.M.
Publication type:
Article
An excerpt from 'The boys, or waiting for the electrician's daughter'.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1396, doi. 10.1002/ajmg.a.36510
By:
- Terpstra, John
Publication type:
Article
American Journal of Medical Genetics Part A: Volume 164A, Number 6, June 2014.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. C1, doi. 10.1002/ajmg.a.36617
Publication type:
Article
Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1559, doi. 10.1002/ajmg.a.36480
By:
- Šípek, Antonín;
- Grodecká, Lucie;
- Baxová, Alice;
- Cibulková, Petra;
- Dvořáková, Magdaléna;
- Mazurová, Stella;
- Magner, Martin;
- Zeman, Jiří;
- Honzík, Tomáš;
- Freiberger, Tomáš
Publication type:
Article
Parents' experiences of receiving their child's genetic diagnosis: A qualitative study to inform clinical genetics practice.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1496, doi. 10.1002/ajmg.a.36525
By:
- Ashtiani, Setareh;
- Makela, Nancy;
- Carrion, Prescilla;
- Austin, Jehannine
Publication type:
Article
Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578-584.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1618, doi. 10.1002/ajmg.a.36518
By:
- Funke, Simone;
- Gardeitchik, Thatjana;
- Kouwenberg, Dorus;
- Mohamed, Miski;
- Wortmann, Saskia;
- Korsch, Eckhard;
- Adamovicz, Maciej;
- Al‐Gazali, Lihadh;
- Wevers, Ron A.;
- Horvath, Adrien;
- Lefeber, Dirk J.;
- Morava, Eva
Publication type:
Article
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1571, doi. 10.1002/ajmg.a.36484
By:
- Dubruc, Estelle;
- Putoux, Audrey;
- Labalme, Audrey;
- Rougeot, Christelle;
- Sanlaville, Damien;
- Edery, Patrick
Publication type:
Article
Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1431, doi. 10.1002/ajmg.a.36466
By:
- Merker, Vanessa L.;
- Bredella, Miriam A.;
- Cai, Wenli;
- Kassarjian, Ara;
- Harris, Gordon J.;
- Muzikansky, Alona;
- Nguyen, Rosa;
- Mautner, Victor F.;
- Plotkin, Scott R.
Publication type:
Article
De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1550, doi. 10.1002/ajmg.a.36477
By:
- Kuroda, Yukiko;
- Ohashi, Ikuko;
- Tominaga, Makiko;
- Saito, Toshiyuki;
- Nagai, Jun‐ichi;
- Ida, Kazumi;
- Naruto, Takuya;
- Masuno, Mitsuo;
- Kurosawa, Kenji
Publication type:
Article
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1419, doi. 10.1002/ajmg.a.36459
By:
- Baban, Anwar;
- Pitto, Letizia;
- Pulignani, Silvia;
- Cresci, Monica;
- Mariani, Laura;
- Gambacciani, Carolina;
- Digilio, Maria Cristina;
- Pongiglione, Giacomo;
- Albanese, Sonia
Publication type:
Article
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1587, doi. 10.1002/ajmg.a.36490
By:
- Brown, Lindsay A.;
- Rupps, Rosemarie;
- Peñaherrera, Maria S.;
- Robinson, Wendy P.;
- Patel, Millan S.;
- Eydoux, Patrice;
- Boerkoel, Cornelius F.
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. x, doi. 10.1002/ajmg.a.36609
Publication type:
Article
The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1503, doi. 10.1002/ajmg.a.36517
By:
- Mirzaa, Ghayda M.;
- Millen, Kathleen J.;
- Barkovich, A. James;
- Dobyns, William B.;
- Paciorkowski, Alex R.
Publication type:
Article
Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1464, doi. 10.1002/ajmg.a.36483
By:
- Samango‐Sprouse, Carole A.;
- Stapleton, Emily J.;
- Mitchell, Francie L.;
- Sadeghin, Teresa;
- Donahue, Thomas P.;
- Gropman, Andrea L.
Publication type:
Article
Blepharo-cheilo-dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1525, doi. 10.1002/ajmg.a.36465
By:
- Ababneh, Farouq K.;
- Al‐Swaid, Abdulrahman;
- Elhag, Ahmed;
- Youssef, Talaat;
- Alsaif, Saif
Publication type:
Article
Hyperphosphatemic familial tumoral calcinosis: Response to acetazolamide and postulated mechanisms.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1545, doi. 10.1002/ajmg.a.36476
By:
- Finer, Gal;
- Price, Heather E.;
- Shore, Richard M.;
- White, Kenneth E.;
- Langman, Craig B.
Publication type:
Article
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1580, doi. 10.1002/ajmg.a.36487
By:
- von Oettingen, Julia E.;
- Tan, Wen‐Hann;
- Dauber, Andrew
Publication type:
Article
Outfoxed by RBFOX1-A caution about ascertainment bias.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1411, doi. 10.1002/ajmg.a.36458
By:
- Kamien, Benjamin;
- Lionel, Anath C.;
- Bain, Nicole;
- Scherer, Stephen W.;
- Hunter, Matthew
Publication type:
Article
Lymphedema in tuberous sclerosis complex.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1438, doi. 10.1002/ajmg.a.36469
By:
- Geffrey, Alexandra L.;
- Shinnick, Julianna E.;
- Staley, Brigid A.;
- Boronat, Susana;
- Thiele, Elizabeth A.
Publication type:
Article
Cell-free fetal DNA tests for trisomy show promise in women at lower risk of affected pregnancies.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. viii, doi. 10.1002/ajmg.a.36608
Publication type:
Article
A day in the life.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1394, doi. 10.1002/ajmg.a.36534
By:
- Adams, Rachel
Publication type:
Article
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1470, doi. 10.1002/ajmg.a.36545
By:
- Van Dijk, F.S.;
- Sillence, D.O.
Publication type:
Article
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1537, doi. 10.1002/ajmg.a.36471
By:
- Masurel‐Paulet, Alice;
- Drumare, Isabelle;
- Holder, Muriel;
- Cuisset, Jean‐Marie;
- Vallée, Louis;
- Defoort, Sabine;
- Bourgois, Béatrice;
- Pernes, Philippe;
- Cuvellier, Jean‐Christophe;
- Huet, Frédéric;
- Chehadeh, Salima El;
- Thevenon, Julien;
- Callier, Patrick;
- Thauvin, Christel;
- Faivre, Laurence;
- Andrieux, Joris
Publication type:
Article
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1565, doi. 10.1002/ajmg.a.36482
By:
- Faqeih, Eissa A.;
- Al‐Owain, Mohammed;
- Colak, Dilek;
- Kenana, Rosan;
- Al‐Yafee, Yusra;
- Al‐Dosary, Mazhor;
- Al‐Saman, Abdulaziz;
- Albalawi, Fadwa;
- Al‐Sarar, Dalia;
- Domiaty, Dalia;
- Daghestani, Maha;
- Kaya, Namik
Publication type:
Article
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1595, doi. 10.1002/ajmg.a.36464
By:
- Fokstuen, Siv;
- Kotzot, Dieter
Publication type:
Article
Craniofacial and dental development in Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1425, doi. 10.1002/ajmg.a.36475
By:
- Goodwin, Alice F.;
- Oberoi, Snehlata;
- Landan, Maya;
- Charles, Cyril;
- Massie, Jessica C.;
- Fairley, Cecilia;
- Rauen, Katherine A.;
- Klein, Ophir D.
Publication type:
Article
Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1512, doi. 10.1002/ajmg.a.36446
By:
- Jelena, Brezo;
- Christina, Lam;
- Eric, Vilain;
- Fabiola, Quintero‐Rivera
Publication type:
Article
Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1384, doi. 10.1002/ajmg.a.36417
By:
- Kline, Antonie D.;
- Calof, Anne L.;
- Schaaf, Cheri A.;
- Krantz, Ian D.;
- Jyonouchi, Soma;
- Yokomori, Kyoko;
- Gauze, Maria;
- Carrico, Cheri S.;
- Woodman, Julie;
- Gerton, Jennifer L.;
- Vega, Hugo;
- Levin, Alex V.;
- Shirahige, Katsuhiko;
- Champion, Michele;
- Goodban, Marjorie T.;
- O'Connor, Julia T.;
- Pipan, Mary;
- Horsfield, Julia;
- Deardorff, Matthew A.;
- Ishman, Stacey L.
Publication type:
Article
Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1576, doi. 10.1002/ajmg.a.36486
By:
- Isrie, Mala;
- Wuyts, Wim;
- Van Esch, Hilde;
- Devriendt, Koenraad
Publication type:
Article
Cervical spine malformation in cornelia de lange syndrome: A report of three patients.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1520, doi. 10.1002/ajmg.a.36457
By:
- Bettini, Laura Rachele;
- Locatelli, Laura;
- Mariani, Milena;
- Cianci, Paola;
- Giussani, Carlo;
- Canonico, Francesco;
- Cereda, Anna;
- Russo, Silvia;
- Gervasini, Cristina;
- Biondi, Andrea;
- Selicorni, Angelo
Publication type:
Article
Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1611, doi. 10.1002/ajmg.a.36479
By:
- Reutter, Heiko;
- Gurung, Nirmala;
- Ludwig, Michael
Publication type:
Article
Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1490, doi. 10.1002/ajmg.a.36500
By:
- Peyvandi, Shabnam;
- Ingall, Eitan;
- Woyciechowski, Stacy;
- Garbarini, Jennifer;
- Mitchell, Laura E.;
- Goldmuntz, Elizabeth
Publication type:
Article
Gene silencing in fragile X syndrome explained.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. vii, doi. 10.1002/ajmg.a.36607
Publication type:
Article
Autism traits in children and adolescents with Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1400, doi. 10.1002/ajmg.a.36573
By:
- Srivastava, Siddharth;
- Landy‐Schmitt, Colleen;
- Clark, Bennett;
- Kline, Antonie D.;
- Specht, Matt;
- Grados, Marco A.
Publication type:
Article
Table of Contents, Volume 164A, Number 6, June 2014.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. fm i, doi. 10.1002/ajmg.a.36618
Publication type:
Article
Chondrodysplasia punctata associated with maternal Sjögren syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1606, doi. 10.1002/ajmg.a.36470
By:
- Huarte, Natalia Marin;
- Santos‐Simarro, Fernando;
- Abascal, Ignacio Pastor;
- García‐Miñaur, Sixto;
- Omeñaca, Felix
Publication type:
Article
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1482, doi. 10.1002/ajmg.a.36481
By:
- Stephen, Joshi;
- Shukla, Anju;
- Dalal, Ashwin;
- Girisha, Katta Mohan;
- Shah, Hitesh;
- Gupta, Neerja;
- Kabra, Madhulika;
- Dabadghao, Preeti;
- Phadke, Shubha R.
Publication type:
Article
L1CAM whole gene deletion in a child with L1 syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1555, doi. 10.1002/ajmg.a.36474
By:
- Chidsey, Brandalyn A.;
- Baldwin, Erin E.;
- Toydemir, Reha;
- Ahles, Lauren;
- Hanson, Heather;
- Stevenson, David A.
Publication type:
Article
Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1530, doi. 10.1002/ajmg.a.36467
By:
- Le Tanno, Pauline;
- Poreau, Brice;
- Devillard, Francoise;
- Vieville, Gaëlle;
- Amblard, Florence;
- Jouk, Pierre‐Simon;
- Satre, Véronique;
- Coutton, Charles
Publication type:
Article
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1454, doi. 10.1002/ajmg.a.36478
By:
- Jenkins, Mary M.;
- Reefhuis, Jennita;
- Gallagher, Margaret L.;
- Mulle, Jennifer G.;
- Hoffmann, Thomas J.;
- Koontz, Deborah A.;
- Sturchio, Cynthia;
- Rasmussen, Sonja A.;
- Witte, John S.;
- Richter, Patricia;
- Honein, Margaret A.
Publication type:
Article
Development of the human aortic arch system captured in an interactive three-dimensional reference model.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1372, doi. 10.1002/ajmg.a.35881
By:
- Rana, M. Sameer;
- Sizarov, Aleksander;
- Christoffels, Vincent M.;
- Moorman, Antoon F.M.
Publication type:
Article
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1614, doi. 10.1002/ajmg.a.36485
By:
- Elsaid, Mahmoud F.;
- Kamel, Hussein;
- Chalhoub, Nader;
- Aziz, Nahla Abdel;
- Ibrahim, Khalid;
- Ben‐Omran, Tawfeg;
- George, Binu;
- Al‐Dous, Eman;
- Mohamoud, Yasmin;
- Malek, Joel A.;
- Ross, M. Elizabeth;
- Aleem, Alice Abdel
Publication type:
Article
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1443, doi. 10.1002/ajmg.a.36489
By:
- Kantaputra, Piranit Nik;
- Kayserili, Hulya;
- Guven, Yeliz;
- Kantaputra, Warissara;
- Balci, Mehmet C.;
- Tanpaiboon, Pranoot;
- Tananuvat, Napaporn;
- Uttarilli, Anusha;
- Dalal, Ashwin
Publication type:
Article