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
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
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
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
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
'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
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
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