Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 2

Results: 44

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 297, doi. 10.1002/ajmg.a.37362

By:

Whitman, Mary C.;
Andrews, Caroline;
Chan, Wai‐Man;
Tischfield, Max A.;
Stasheff, Steven F.;
Brancati, Francesco;
Ortiz‐Gonzalez, Xilma;
Nuovo, Sara;
Garaci, Francesco;
MacKinnon, Sarah E.;
Hunter, David G.;
Grant, P. Ellen;
Engle, Elizabeth C.

Publication type:

Article

Children with developmental delays rarely referred to geneticists.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 294, doi. 10.1002/ajmg.a.37554
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 296, doi. 10.1002/ajmg.a.37555
Publication type:: Article

American Journal of Medical Genetics Part A: Volume 170A, Number 2, Feburary 2016.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. C1, doi. 10.1002/ajmg.a.37556
Publication type:: Article

Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1-23.3.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 492, doi. 10.1002/ajmg.a.37430

By:

Shiohama, Tadashi;
Fujii, Katsunori;
Hino, Moeko;
Shimizu, Kenji;
Ohashi, Hirofumi;
Kambe, Michiyo;
Nakatani, Yukio;
Mitsunaga, Tetsuya;
Yoshida, Hideo;
Ochiai, Hidemasa;
Shimojo, Naoki

Publication type:

Article

Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 476, doi. 10.1002/ajmg.a.37431

By:

Balasubramanian, Meena;
Cartwright, Ashley;
Smith, Kath;
Arundel, Paul;
Bishop, Nicholas J.

Publication type:

Article

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 322, doi. 10.1002/ajmg.a.37432

By:

Takano, Kyoko;
Shiba, Naoko;
Wakui, Keiko;
Yamaguchi, Tomomi;
Aida, Noriko;
Inaba, Yuji;
Fukushima, Yoshimitsu;
Kosho, Tomoki

Publication type:

Article

Associated congenital anomalies in infants with isolated gastroschisis: A single-institutional experience.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 316, doi. 10.1002/ajmg.a.37433

By:

Corona‐Rivera, Jorge Román;
Nieto‐García, Rafael;
López‐Marure, Eloy;
Cárdenas‐Ruiz Velasco, Juan José;
Bobadilla‐Morales, Lucina;
Mellín‐Sánchez, Estrella Lizbeth;
Aguirre‐Guillén, Rafael L.;
Pérez‐Ramírez, René O.;
Zapata‐Aldana, Eugenio;
Sandoval‐Talamantes, Ana K.;
Solís‐Ledezma, Susana;
Corona‐Rivera, Alfredo;
Gómez‐Ruiz, Larissa M.

Publication type:

Article

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 344, doi. 10.1002/ajmg.a.37435

By:

Hale, Caitlin L.;
Niederriter, Adrienne N.;
Green, Glenn E.;
Martin, Donna M.

Publication type:

Article

Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 306, doi. 10.1002/ajmg.a.37437

By:

Feldkamp, Marcia L.;
Botto, Lorenzo D.;
Byrne, Janice L. B.;
Krikov, Sergey;
Carey, John C.

Publication type:

Article

Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 482, doi. 10.1002/ajmg.a.37438

By:

Ryan, Kaitlin M.;
Ellis, Alexander R.;
Raafat, Reem;
Bhoj, Elizabeth J.;
Hakonarson, Hakon;
Li, Dong;
Schrier Vergano, Samantha

Publication type:

Article

Factors influencing uptake of familial long QT syndrome genetic testing.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 418, doi. 10.1002/ajmg.a.37455

By:

Burns, Charlotte;
McGaughran, Julie;
Davis, Andrew;
Semsarian, Christopher;
Ingles, Jodie

Publication type:

Article

The categories of cutaneous mosaicism: A proposed classification.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 452, doi. 10.1002/ajmg.a.37439

By:

Happle, Rudolf

Publication type:

Article

Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 504, doi. 10.1002/ajmg.a.37451

By:

Bouman, Arjan;
Knegt, Lia;
Gröschel, Stefan;
Erpelinck, Claudia;
Sanders, Mathijs;
Delwel, Ruud;
Kuijpers, Taco;
Cobben, Jan Maarten

Publication type:

Article

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 392, doi. 10.1002/ajmg.a.37452

By:

Fauth, Christine;
Steindl, Katharina;
Toutain, Annick;
Farrell, Sandra;
Witsch‐Baumgartner, Martina;
Karall, Daniela;
Joset, Pascal;
Böhm, Sebastian;
Baumer, Alessandra;
Maier, Oliver;
Zschocke, Johannes;
Weksberg, Rosanna;
Marshall, Christian R.;
Rauch, Anita

Publication type:

Article

Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 510, doi. 10.1002/ajmg.a.37453

By:

van Koningsbruggen, Silvana;
Knoester, Hennie;
Bakx, Roel;
Mook, Olaf;
Knegt, Lia;
Cobben, Jan Maarten

Publication type:

Article

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 515, doi. 10.1002/ajmg.a.37454

By:

Fan, Yanjie;
Qiu, Wenjuan;
Wang, Lili;
Gu, Xuefan;
Yu, Yongguo

Publication type:

Article

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 498, doi. 10.1002/ajmg.a.37450

By:

Bosson, Caroline;
Devillard, Françoise;
Satre, Véronique;
Dieterich, Klaus;
Ray, Pierre F.;
Morand, Béatrice;
Dubois‐Teklali, Fanny;
Vieville, Gaëlle;
Andrieux, Joris;
Brouillet, Sophie;
Amblard, Florence;
Jouk, Pierre‐Simon;
Coutton, Charles

Publication type:

Article

'This lifetime commitment': Public conceptions of disability and noninvasive prenatal genetic screening.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 363, doi. 10.1002/ajmg.a.37459

By:

Steinbach, Rosemary J.;
Allyse, Megan;
Michie, Marsha;
Liu, Emily Y.;
Cho, Mildred K.

Publication type:

Article

Severe connective tissue laxity including aortic dilatation in Sotos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 531, doi. 10.1002/ajmg.a.37402

By:

Hood, Rebecca L.;
McGillivray, George;
Hunter, Matthew F.;
Roberston, Stephen P.;
Bulman, Dennis E.;
Boycott, Kym M.;
Stark, Zornitza

Publication type:

Article

Interactions between RAD51 rs1801321 and maternal cigarette smoking as risk factor for nonsyndromic cleft lip with or without cleft palate.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 536, doi. 10.1002/ajmg.a.37281

By:

Machado, Renato Assis;
Moreira, Helenara Salvati Bertolossi;
de Aquino, Sibele Nascimento;
Martelli‐Junior, Hercilio;
de Almeida Reis, Silvia Regina;
Persuhn, Darlene Camati;
Wu, Tao;
Yuan, Yuan;
Coletta, Ricardo D.

Publication type:

Article

Prenatal findings in cardio-facio-cutaneous syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 441, doi. 10.1002/ajmg.a.37420

By:

Templin, Ludivine;
Baumann, Clarisse;
Busa, Tiffany;
Heckenroth, Hélène;
Pouvreau, Nathalie;
Toutain, Annick;
Cave, Hélène;
Verloes, Alain;
Sigaudy, Sabine;
Philip, Nicole

Publication type:

Article

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 540, doi. 10.1002/ajmg.a.37421

By:

Komara, Makanko;
John, Anne;
Suleiman, Jehan;
Ali, Bassam R.;
Al‐Gazali, Lihadh

Publication type:

Article

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 435, doi. 10.1002/ajmg.a.37422

By:

Al‐Maawali, Almundher;
Barry, Brenda J.;
Rajab, Anna;
El‐Quessny, Malak;
Seman, Ann;
Coury, Stephanie Newton;
Barkovich, A. James;
Yang, Edward;
Walsh, Christopher A.;
Mochida, Ganeshwaran H.;
Stoler, Joan M.

Publication type:

Article

Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 446, doi. 10.1002/ajmg.a.37423

By:

Hidalgo‐Bravo, Alberto;
Acosta‐Nieto, Maria L.;
Normendez‐Martinez, Monica I.;
Rodriguez‐Gonzalez, Nubia F.;
Paz‐Gomez, Francisco;
Valdes‐Flores, Margarita;
Kramis‐Hollands, Mirelle

Publication type:

Article

Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 329, doi. 10.1002/ajmg.a.37424

By:

Russo, Francesca M.;
Pozzi, Elisa;
Verderio, Maria;
Bernasconi, Davide P.;
Giardini, Valentina;
Colombo, Carla;
Maitz, Silvia;
Vergani, Patrizia

Publication type:

Article

Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 355, doi. 10.1002/ajmg.a.37425

By:

Hamza, Rasha T.;
Shalaby, Mennatallah H.;
Hamed, Laith S.;
Abdulla, Dunya B. A.;
Elfekky, Sahar M.;
Sultan, Omar M.

Publication type:

Article

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 460, doi. 10.1002/ajmg.a.37426

By:

Mansouri, Maria;
Kayserili, Hülya;
Elalaoui, Siham Chafai;
Nishimura, Gen;
Iida, Aritoshi;
Lyahyai, Jaber;
Miyake, Noriko;
Matsumoto, Naomichi;
Sefiani, Abdelaziz;
Ikegawa, Shiro

Publication type:

Article

An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 337, doi. 10.1002/ajmg.a.37427

By:

Bruns, Deborah A.;
Martinez, Alyssa

Publication type:

Article

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 471, doi. 10.1002/ajmg.a.37429

By:

Izumi, Kosuke;
Hayashi, Daisuke;
Grochowski, Christopher M.;
Kubota, Noriko;
Nishi, Eriko;
Arakawa, Michiko;
Hiroma, Takehiko;
Hatata, Tomoko;
Ogiso, Yoshifumi;
Nakamura, Tomohiko;
Falsey, Alexandra M.;
Hidaka, Eiko;
Spinner, Nancy B.

Publication type:

Article

Table of Contents, Volume 170A, Number 2, February 2016.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 287, doi. 10.1002/ajmg.a.37303
Publication type:: Article

Publication schedule for 2016.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 292, doi. 10.1002/ajmg.a.37304
Publication type:: Article

23andMe markets carrier screening service directly to consumers.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 293, doi. 10.1002/ajmg.a.37305

By:

Levenson, Deborah

Publication type:

Article

Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 544, doi. 10.1002/ajmg.a.37440

By:

Carrasco Salas, Pilar;
Palma Milla, Carmen;
Lezana Rosales, José Miguel;
Benito, Carmen;
Franco Freire, Sara;
López Siles, Juan

Publication type:

Article

A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 487, doi. 10.1002/ajmg.a.37441

By:

Hufnagel, Robert B.;
Zimmerman, Sarah L.;
Krueger, Laura A.;
Bender, Patricia L.;
Ahmed, Zubair M.;
Saal, Howard M.

Publication type:

Article

Russel-Silver syndrome: A historical note and comment on an older adult.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 466, doi. 10.1002/ajmg.a.37442

By:

Searle, Claire;
Johnson, Diana

Publication type:

Article

Erratum.

Published in:: American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 548, doi. 10.1002/ajmg.a.37446
Publication type:: Article

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 410, doi. 10.1002/ajmg.a.37447

By:

Bhavani, Gandham SriLakshmi;
Shah, Hitesh;
Shukla, Anju;
Gupta, Neerja;
Gowrishankar, Kalpana;
Rao, Anand P.;
Kabra, Madhulika;
Agarwal, Meenal;
Ranganath, Prajnya;
Ekbote, Alka V.;
Phadke, Shubha R.;
Kamath, Asha;
Dalal, Ashwin;
Girisha, Katta Mohan

Publication type:

Article

Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 403, doi. 10.1002/ajmg.a.37448

By:

Faria, Ágatha Cristhina;
Rabbi‐Bortolini, Eliete;
Rebouças, Maria R. G. O.;
de S. Thiago Pereira, Andréia L. A.;
Frasson, Milena G. Tonini;
Atique, Rodrigo;
Lourenço, Naila Cristina V.;
Rosenberg, Carla;
Kobayashi, Gerson S.;
Passos‐Bueno, Maria Rita;
Errera, Flávia Imbroisi Valle

Publication type:

Article

Corrigendum to 'Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86'.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 547, doi. 10.1002/ajmg.a.37449

By:

Mirzaa, Ghayda M.;
Collins, Sarah;
Dobyns, William B.

Publication type:

Article

Non-invasive prenatal screening for trisomy 21: Consumers' perspectives.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 375, doi. 10.1002/ajmg.a.37460

By:

Higuchi, Emily C.;
Sheldon, Jane P.;
Zikmund‐Fisher, Brian J.;
Yashar, Beverly M.

Publication type:

Article

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 386, doi. 10.1002/ajmg.a.37461

By:

Savage, Sharon A.;
Ballew, Bari J.;
Giri, Neelam;
Chandrasekharappa, Settara C.;
Ameziane, Najim;
de Winter, Johan;
Alter, Blanche P.

Publication type:

Article

Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 426, doi. 10.1002/ajmg.a.37463

By:

Wang, Wei;
Song, Mi Hyun;
Miura, Kohji;
Fujiwara, Makoto;
Nawa, Nobutoshi;
Ohata, Yasuhisa;
Kitaoka, Taichi;
Kubota, Takuo;
Namba, Noriyuki;
Jin, Dong Kyu;
Kim, Ok Hwa;
Ozono, Keiichi;
Cho, Tae‐Joon

Publication type:

Article

Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 523, doi. 10.1002/ajmg.a.37462

By:

Christiaens, Antoine B.;
Deprez, Pierre M. L.;
Amyere, Mustapha;
Mendola, Antonella;
Bernard, Pierre;
Gillerot, Yves;
Clapuyt, Philippe;
Godfraind, Catherine;
Lengelé, Benoît G.;
Vikkula, Miikka;
Nyssen‐Behets, Catherine

Publication type:

Article