Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 2

Results: 55

Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 1, doi. 10.1002/ajmg.a.36437

By:

Castori, Marco;
Morlino, Silvia;
Grammatico, Paola

Publication type:

Article

Cardiac manifestations of Pallister-Killian syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 1, doi. 10.1002/ajmg.a.36413

By:

Tilton, Richard K.;
Wilkens, Alisha;
Krantz, Ian D.;
Kosuke Izumi

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. 2, p. 1, doi. 10.1002/ajmg.a.36417

By:

Kline, Antonie D.;
Calof, Anne L.;
Schaaf, Cheri A.;
Krantz, Ian D.;
Jyonouchi, Soma;
Kyoko Yokomori;
Gauze, Maria;
Carrico, Cheri S.;
Woodman, Julie;
Gerton, Jennifer L.;
Vega, Hugo;
Levin, Alex V.;
Katsuhiko Shirahige;
Champion, Michele;
Goodban, Marjorie T.;
O¿Connor, Julia T.;
Pipan, Mary;
Horsfield, Julia;
Deardorff, Matthew A.;
Ishman, Stacey L.

Publication type:

Article

Table of Contents, Volume 164A, Number 2, Feabruary 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. fm i, doi. 10.1002/ajmg.a.36473
Publication type:: Article

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 528, doi. 10.1002/ajmg.a.36301

By:

Castori, Marco;
Morlino, Silvia;
Ritelli, Marco;
Brancati, Francesco;
De Bernardo, Carmelilia;
Colombi, Marina;
Grammatico, Paola

Publication type:

Article

Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 535, doi. 10.1002/ajmg.a.36305

By:

Batanian, Jacqueline R.;
Braddock, Stephen R.;
Christensen, Katherine;
Knutsen, Alan P.

Publication type:

Article

Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 551, doi. 10.1002/ajmg.a.36231

By:

dos Santos, Pollyanna Almeida Costa;
de Oliveira, Silviene Fabiana;
Freitas, Erika L.;
Safatle, Heloisa Pires Neto;
Rosenberg, Carla;
Ferrari, Iris;
Mazzeu, Juliana Forte

Publication type:

Article

Court ruling invalidates patent on noninvasive test for down syndrome.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. xi, doi. 10.1002/ajmg.a.36419
Publication type:: Article

Hepatoblastoma in a 15-month-old female with trisomy 13.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 472, doi. 10.1002/ajmg.a.36271

By:

Shah, Rachana;
Tran, Hung Chi;
Randolph, Linda;
Mascarenhas, Leo;
Venkatramani, Rajkumar

Publication type:

Article

SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 554, doi. 10.1002/ajmg.a.36242

By:

Vanzo, Rena J.;
Martin, Megan M.;
Sdano, Mallory R.;
Teta, Kathie;
Aggarwal, Vimla;
South, Sarah T.

Publication type:

Article

Medial defects of the small pulmonary arteries in fatal pulmonary hypertension in infants with trisomy 13 and trisomy 18.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 319, doi. 10.1002/ajmg.a.36282

By:

Tahara, Masahiro;
Shimozono, Saiko;
Nitta, Tetsuya;
Yamaki, Shigeo

Publication type:

Article

Haploinsufficiency of BMP 4 gene may be the underlying cause of Frías syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 338, doi. 10.1002/ajmg.a.36224

By:

Martínez‐Fernández, María Luisa;
Bermejo‐Sánchez, Eva;
Fernández, Belén;
MacDonald, Alexandra;
Fernández‐Toral, Joaquín;
Martínez‐Frías, María Luisa

Publication type:

Article

A case of pancreatic agenesis and congenital heart defects with a novel GATA 6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 476, doi. 10.1002/ajmg.a.36275

By:

Suzuki, Shigeru;
Nakao, Atsushi;
Sarhat, Ashoor R.;
Furuya, Akiko;
Matsuo, Kumihiro;
Tanahashi, Yusuke;
Kajino, Hiroki;
Azuma, Hiroshi

Publication type:

Article

Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 461, doi. 10.1002/ajmg.a.36246

By:

Chung, Brian H.Y.;
Bradley, Tim;
Grosse‐Wortmann, Lars;
Blaser, Susan;
Dirks, Peter;
Hinek, Aleksander;
Chitayat, David

Publication type:

Article

Lucky.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 305, doi. 10.1002/ajmg.a.36286

By:

Jaronczyk, Katarzyna

Publication type:

Article

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 377, doi. 10.1002/ajmg.a.36279

By:

Palmer, Emma;
Speirs, Helen;
Taylor, Peter J;
Mullan, Glenda;
Turner, Gill;
Einfeld, Stewart;
Tonge, Bruce;
Mowat, David

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 164A, Number 2, February 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. C1, doi. 10.1002/ajmg.a.36472
Publication type:: Article

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 386, doi. 10.1002/ajmg.a.36285

By:

Vandersteen, Anthony M.;
Lund, Allan M.;
Ferguson, David J.P.;
Sawle, Philip;
Pollitt, Rebecca C.;
Holder, Susan E.;
Wakeling, Emma;
Moat, Neil;
Pope, F. Michael

Publication type:

Article

Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 415, doi. 10.1002/ajmg.a.36304

By:

Shimada, Shino;
Maegaki, Yoshihiro;
Osawa, Makiko;
Yamamoto, Toshiyuki

Publication type:

Article

Patients and families generally welcome secondary genomic findings.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. ix, doi. 10.1002/ajmg.a.36418

By:

Levenson, Deborah

Publication type:

Article

Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 370, doi. 10.1002/ajmg.a.36281

By:

Sánchez, Javier;
Fernández, Raquel;
Madruga, Marcos;
Bernabeu‐Wittel, José;
Antiñolo, Guillermo;
Borrego, Salud

Publication type:

Article

Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 511, doi. 10.1002/ajmg.a.36292

By:

So, Joyce;
Stockley, Tracy;
Stavropoulos, Dimitri J.

Publication type:

Article

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS 13 B mutations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 522, doi. 10.1002/ajmg.a.36300

By:

Gueneau, Lucie;
Duplomb, Laurence;
Sarda, Pierre;
Hamel, Christian;
Aral, Bernard;
Chehadeh, Salima El;
Gigot, Nadège;
St‐Onge, Judith;
Callier, Patrick;
Thevenon, Julien;
Huet, Frédéric;
Carmignac, Virginie;
Droin, Nathalie;
Faivre, Laurence;
Thauvin‐Robinet, Christel

Publication type:

Article

Hypoglycemia in Kabuki syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 467, doi. 10.1002/ajmg.a.36256

By:

Subbarayan, Anbezhil;
Hussain, Khalid

Publication type:

Article

Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 364, doi. 10.1002/ajmg.a.36238

By:

Peterson, Jess F.;
Ghaloul‐Gonzalez, Lina;
Madan‐Khetarpal, Suneeta;
Hartman, Jessica;
Surti, Urvashi;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.

Publication type:

Article

A patient with a duplication of chromosome 3p (p24.1p26.2): A comparison with other partial 3p trisomies.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 548, doi. 10.1002/ajmg.a.36164

By:

Natera‐de Benito, Daniel;
García‐Pérez, M Asunción;
Martínez‐Granero, Miguel Ángel;
Izquierdo‐López, Luis

Publication type:

Article

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: An array CGH analysis and review.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 490, doi. 10.1002/ajmg.a.36278

By:

Akalin, Ibrahim;
Bozdag, Senol;
Spielmann, Malte;
Basaran, Sarenur Yilmaz;
Nanda, Indrajit;
Klopocki, Eva

Publication type:

Article

Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 559, doi. 10.1002/ajmg.a.36289

By:

Betat, Rosilene da S.;
Telles, Jorge A. B.;
Gobatto, Amanda M.;
Bicca, Anna M. de H.;
Arcolini, Camila P.;
Dal Pai, Thaís K. V.;
Faria, Adyr E. V.;
Zen, Paulo R. G.;
Rosa, Rafael F. M.

Publication type:

Article

Orthopedics management of acromicric dysplasia: Follow up of nine patients.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 331, doi. 10.1002/ajmg.a.36139

By:

Klein, Céline;
Le Goff, Carine;
Topouchian, Vicken;
Odent, Sylvie;
Violas, Philippe;
Glorion, Christophe;
Cormier‐Daire, Valérie

Publication type:

Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. xii, doi. 10.1002/ajmg.a.36420
Publication type:: Article

Airway malacia in children with achondroplasia.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 407, doi. 10.1002/ajmg.a.36303

By:

Dessoffy, Kimberly E.;
Modaff, Peggy;
Pauli, Richard M.

Publication type:

Article

1p34.3 deletion involving GRIK 3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 456, doi. 10.1002/ajmg.a.36240

By:

Takenouchi, Toshiki;
Hashida, Noriko;
Torii, Chiharu;
Kosaki, Rika;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

WNT 10 A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 360, doi. 10.1002/ajmg.a.36280

By:

Kantaputra, P.;
Kaewgahya, M.;
Kantaputra, W.

Publication type:

Article

Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 397, doi. 10.1002/ajmg.a.36291

By:

Osoegawa, Kazutoyo;
Iovannisci, David M.;
Lin, Bin;
Parodi, Christina;
Schultz, Kathleen;
Shaw, Gary M.;
Lammer, Edward J.

Publication type:

Article

Small mosaic deletion encompassing the snoRNAs and SNURF - SNRPN results in an atypical Prader-Willi syndrome phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 425, doi. 10.1002/ajmg.a.36307

By:

Anderlid, Britt‐Marie;
Lundin, Johanna;
Malmgren, Helena;
Lehtihet, Mikael;
Nordgren, Ann

Publication type:

Article

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 287, doi. 10.1002/ajmg.a.36273

By:

Roberts, Jessica;
Torres‐Martinez, Wilfredo;
Farrow, Emily;
Stevens, Abby;
Delk, Paula;
White, Kenneth E.;
Weaver, David D.

Publication type:

Article

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 505, doi. 10.1002/ajmg.a.36284

By:

Tsuchiya, Takayoshi;
Shibata, Minoru;
Numabe, Hironao;
Jinno, Tomoko;
Nakabayashi, Kazuhiko;
Nishimura, Gen;
Nagai, Toshiro;
Ogata, Tsutomu;
Fukami, Maki

Publication type:

Article

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 484, doi. 10.1002/ajmg.a.36277

By:

Aslanger, Ayca D.;
Altunoglu, Umut;
Aslanger, Emre;
Satkın, Bilge N.;
Uyguner, Zehra Oya;
Kayserili, Hülya

Publication type:

Article

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 291, doi. 10.1002/ajmg.a.36248

By:

Alanay, Yasemin;
Ergüner, Bekir;
Utine, Eda;
Haçarız, Orçun;
Kiper, Pelin Ozlem Simsek;
Taşkıran, Ekim Zihni;
Perçin, Ferda;
Uz, Elif;
Sağıroğlu, Mahmut Şamil;
Yuksel, Bayram;
Boduroglu, Koray;
Akarsu, Nurten Ayse

Publication type:

Article

Multiple café au lait spots in familial patients with MAP2K2 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 392, doi. 10.1002/ajmg.a.36288

By:

Takenouchi, Toshiki;
Shimizu, Atsushi;
Torii, Chiharu;
Kosaki, Rika;
Takahashi, Takao;
Saya, Hideyuki;
Kosaki, Kenjiro

Publication type:

Article

Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 516, doi. 10.1002/ajmg.a.36299

By:

Rojnueangnit, Kitiwan;
Jones, Julie R.;
Basehore, Monica J.;
Robin, Nathaniel H.

Publication type:

Article

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 441, doi. 10.1002/ajmg.a.36320

By:

Au, P.Y. Billie;
Argiropoulos, Bob;
Parboosingh, Jillian S.;
Micheil Innes, A.

Publication type:

Article

Waardenburg syndrome type 4: Report of two new cases caused by SOX 10 mutations in Spain.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 542, doi. 10.1002/ajmg.a.36302

By:

Fernández, Raquel M.;
Núñez‐Ramos, Raquel;
Enguix‐Riego, Mª Valle;
Román‐Rodríguez, Francisco José;
Galán‐Gómez, Enrique;
Blesa‐Sánchez, Emilio;
Antiñolo, Guillermo;
Núñez‐Núñez, Ramón;
Borrego, Salud

Publication type:

Article

A description of spina bifida cases and co-occurring malformations, 1976-2011.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 432, doi. 10.1002/ajmg.a.36324

By:

Parker, Samantha E.;
Yazdy, Mahsa M.;
Mitchell, Allen A.;
Demmer, Laurie A.;
Werler, Martha M.

Publication type:

Article

The childless man.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 561, doi. 10.1002/ajmg.a.36290

By:

Scheuerle, Angela E.;
Picconi, Jason L.;
Neidich, Julie;
Panny, Susan;
Plecher, Beth A.;
Randolph, Linda M.;
Trapane, Pamela;
Trotter, Tracy L.

Publication type:

Article

An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 421, doi. 10.1002/ajmg.a.36306

By:

Miller, Jennifer L.;
Angulo, Moris

Publication type:

Article

WNT 10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 353, doi. 10.1002/ajmg.a.36243

By:

Arzoo, Pakeeza Shaiq;
Klar, Joakim;
Bergendal, Birgitta;
Norderyd, Johanna;
Dahl, Niklas

Publication type:

Article

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 495, doi. 10.1002/ajmg.a.36283

By:

Capra, V.;
Severino, M.;
Rossi, A.;
Nozza, P.;
Doneda, C.;
Perri, K.;
Pavanello, M.;
Fiorio, P.;
Gimelli, G.;
Tassano, E.;
Di Battista, E.

Publication type:

Article

Potocki-shaffer deletion encompassing ALX 4 in a patient with frontonasal dysplasia phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 346, doi. 10.1002/ajmg.a.36140

By:

Ferrarini, Alessandra;
Gaillard, Muriel;
Guerry, Frederic;
Ramelli, Gianpaolo;
Heidi, Fodstad;
Keddache, Caroline Verley;
Wieland, Ilse;
Beckmann, Jacques S.;
Jaquemont, Sébastien;
Martinet, Danielle

Publication type:

Article

After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 557, doi. 10.1002/ajmg.a.36254

By:

Benson, Cindy;
Stobie, Lindsey;
Shur, Natasha;
Yuan, Zhenglong;
Teixeira, Manuel R;
Chung, Maureen

Publication type:

Article