Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 11

Results: 47

Table of Contents, Volume 170A, Number 11, November 2016.

Published in:: 2016
Publication type:: Other

Publication schedule for 2016.

Published in:: 2016
Publication type:: Other

Role of inherited variants in nonsyndromic heart defects confirmed.

Published in:: 2016
Publication type:: Other

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2916, doi. 10.1002/ajmg.a.37669

By:

Zahir, Farah R.;
Tucker, Tracy;
Mayo, Sonia;
Brown, Carolyn J.;
Lim, Emilia L.;
Taylor, Jonathan;
Marra, Marco A.;
Hamdan, Fadi F.;
Michaud, Jacques L.;
Friedman, Jan M.

Publication type:

Article

Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2870, doi. 10.1002/ajmg.a.37688

By:

Wigby, Kristen;
D'Epagnier, Cheryl;
Howell, Susan;
Reicks, Amy;
Wilson, Rebecca;
Cordeiro, Lisa;
Tartaglia, Nicole

Publication type:

Article

Annals of morphology THEODOR BOVERI (1862-1915) To commemorate the centenary of his death and contributions to the Sutton-Boveri hypothesis.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2803, doi. 10.1002/ajmg.a.37693

By:

Opitz, John M.

Publication type:

Article

Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2984, doi. 10.1002/ajmg.a.37695

By:

Au, Ping‐Yee Billie;
Chernos, Judy E.;
Thomas, Mary Ann

Publication type:

Article

Unusual skin manifestations in a patient with menkes disease.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3039, doi. 10.1002/ajmg.a.37696

By:

Gupta, Divya;
Rao, Raghavendra;
Girisha, Katta M.;
Stephen, Joshi;
Phadke, Shubha R.

Publication type:

Article

Response to: Papetti et al., 'The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome'.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3054, doi. 10.1002/ajmg.a.37742

By:

Cassina, Matteo

Publication type:

Article

The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3041, doi. 10.1002/ajmg.a.37753

By:

Papetti, Laura;
Schettini, Livia;
Garone, Giacomo;
Gennaro, Elena;
Malacarne, Michela;
Properzi, Enrico;
Spalice, Alberto

Publication type:

Article

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2988, doi. 10.1002/ajmg.a.37755

By:

Piret, Sian E.;
Gorvin, Caroline M.;
Trinh, Anne;
Taylor, John;
Lise, Stefano;
Taylor, Jenny C.;
Ebeling, Peter R.;
Thakker, Rajesh V.

Publication type:

Article

Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2993, doi. 10.1002/ajmg.a.37756

By:

Yang, Chen;
Dehner, Louis P.

Publication type:

Article

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2998, doi. 10.1002/ajmg.a.37759

By:

Shukla, Anju;
Hebbar, Malavika;
Harms, Frederike L.;
Kadavigere, Rajagopal;
Girisha, Katta M.;
Kutsche, Kerstin

Publication type:

Article

The neuropsychological function of children with achondroplasia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2882, doi. 10.1002/ajmg.a.37779

By:

Wigg, Kimberley;
Tofts, Louise;
Benson, Suzanne;
Porter, Melanie

Publication type:

Article

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2927, doi. 10.1002/ajmg.a.37792

By:

Moortgat, Stéphanie;
Désir, Julie;
Benoit, Valérie;
Boulanger, Sébastien;
Pendeville, Hélène;
Nassogne, Marie‐Cécile;
Lederer, Damien;
Maystadt, Isabelle

Publication type:

Article

In memoriam: Dr. Andrew Czeizel.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2832, doi. 10.1002/ajmg.a.37813

By:

Evans, Jane A.

Publication type:

Article

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2943, doi. 10.1002/ajmg.a.37820

By:

Steinman, Kyle J.;
Spence, Sarah J.;
Ramocki, Melissa B.;
Proud, Monica B.;
Kessler, Sudha K.;
Marco, Elysa J.;
Green Snyder, LeeAnne;
D'Angelo, Debra;
Chen, Qixuan;
Chung, Wendy K.;
Sherr, Elliott H.

Publication type:

Article

In memoriam: Dr. Andrew E. Czeizel (April 03, 1935-August 10, 2015).

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2830, doi. 10.1002/ajmg.a.37821

By:

Merhala, Zoltan

Publication type:

Article

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2889, doi. 10.1002/ajmg.a.37826

By:

Nishi, Eriko;
Masuda, Koji;
Arakawa, Michiko;
Kawame, Hiroshi;
Kosho, Tomoki;
Kitahara, Masashi;
Kubota, Noriko;
Hidaka, Eiko;
Katoh, Yuki;
Shirahige, Katsuhiko;
Izumi, Kosuke

Publication type:

Article

Pseudo-dominant inheritance of a novel double GLA mutation associated with Fabry disease mimicking familial episodic pain.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3051, doi. 10.1002/ajmg.a.37833

By:

Mao, Chengyuan;
Luo, Haiyang;
Yang, Jing;
Qin, Jie;
Wang, Hui;
Song, Bo;
Sun, Shilei;
Zhuang, Zhengping;
Shi, Changhe;
Xu, Yuming

Publication type:

Article

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3004, doi. 10.1002/ajmg.a.37836

By:

Raviglione, Federico;
Conte, Giorgio;
Ghezzi, Daniele;
Parazzini, Cecilia;
Righini, Andrea;
Vergaro, Raffaella;
Legati, Andrea;
Spaccini, Luigina;
Gasperini, Serena;
Garavaglia, Barbara;
Mastrangelo, Massimo

Publication type:

Article

'It wasn't a disaster or anything': Parents' experiences of their child's uncertain chromosomal microarray result.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2895, doi. 10.1002/ajmg.a.37838

By:

Wilkins, Ella J.;
Archibald, Alison D.;
Sahhar, Margaret A.;
White, Susan M.

Publication type:

Article

Neonatal McCune-Albright syndrome with survival beyond two years.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3008, doi. 10.1002/ajmg.a.37841

By:

Pierce, Melinda;
Scottoline, Brian

Publication type:

Article

Clinical and genetic aspects of KBG syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2835, doi. 10.1002/ajmg.a.37842

By:

Low, Karen;
Ashraf, Tazeen;
Canham, Natalie;
Clayton‐Smith, Jill;
Deshpande, Charu;
Donaldson, Alan;
Fisher, Richard;
Flinter, Frances;
Foulds, Nicola;
Fryer, Alan;
Gibson, Kate;
Hayes, Ian;
Hills, Alison;
Holder, Susan;
Irving, Melita;
Joss, Shelagh;
Kivuva, Emma;
Lachlan, Kathryn;
Magee, Alex;
McConnell, Vivienne

Publication type:

Article

Nine year old boy with chromosome 1q23.3-q25.1 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3013, doi. 10.1002/ajmg.a.37843

By:

Lam, Felicia;
Morris, Colleen

Publication type:

Article

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3018, doi. 10.1002/ajmg.a.37845

By:

Naseer, Muhammad Imran;
Sogaty, Sameera;
Rasool, Mahmood;
Chaudhary, Adeel G.;
Abutalib, Yousif Ahmed;
Walker, Susan;
Marshall, Christian R.;
Merico, Daniele;
Carter, Melissa T.;
Scherer, Stephen W.;
Al‐Qahtani, Mohammad H.;
Zarrei, Mehdi

Publication type:

Article

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3023, doi. 10.1002/ajmg.a.37846

By:

Kim, Soo Yeon;
Choi, Sun Ah;
Lee, Sangmoon;
Lee, Jin Sook;
Hong, Che Ry;
Lim, Byung Chan;
Kang, Hyoung Jin;
Kim, Ki Joong;
Park, Sung‐Hye;
Choi, Murim;
Chae, Jong‐Hee

Publication type:

Article

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3028, doi. 10.1002/ajmg.a.37847

By:

Boone, Philip M.;
Chan, Yiu Man;
Hunter, Jill V.;
Pottkotter, Louis E.;
Davino, Nelson A.;
Yang, Yaping;
Beuten, Joke;
Bacino, Carlos A.

Publication type:

Article

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2934, doi. 10.1002/ajmg.a.37848

By:

Rasmussen, Maria;
Vestergaard, Else Marie;
Graakjaer, Jesper;
Petkov, Yanko;
Bache, Iben;
Fagerberg, Christina;
Kibæk, Maria;
Svaneby, Dea;
Petersen, Olav Bjørn;
Brasch‐Andersen, Charlotte;
Sunde, Lone

Publication type:

Article

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3048, doi. 10.1002/ajmg.a.37849

By:

Gorman, Kathleen M.;
Lynch, Sally A.;
Schneider, Adele;
Grange, Dorothy K.;
Williamson, Kathleen A.;
FitzPatrick, David R.;
King, Mary D.

Publication type:

Article

3D morphometry aids facial analysis of individuals with a childhood cancer.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2905, doi. 10.1002/ajmg.a.37850

By:

Hopman, Saskia M. J.;
Merks, Johannes H. M.;
Suttie, Michael;
Hennekam, Raoul C. M.;
Hammond, Peter

Publication type:

Article

Functional abilities in children and adults with the CDKL5 disorder.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2860, doi. 10.1002/ajmg.a.37851

By:

Fehr, Stephanie;
Downs, Jenny;
Ho, Gladys;
de Klerk, Nick;
Forbes, David;
Christodoulou, John;
Williams, Simon;
Leonard, Helen

Publication type:

Article

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3033, doi. 10.1002/ajmg.a.37853

By:

Smith, Nicholas J.;
Lipsett, Jill;
Dibbens, Leanne M.;
Heron, Sarah E.

Publication type:

Article

Syringomyelia in hereditary multiple exostosis.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2956, doi. 10.1002/ajmg.a.37854

By:

Legare, Janet M.;
Modaff, Peggy;
Iskandar, Bermans J.;
Pauli, Richard M.

Publication type:

Article

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2960, doi. 10.1002/ajmg.a.37856

By:

Crawford, April;
Moore, Lynette;
Bennett, Gregory;
Savarirayan, Ravi;
Manton, Nicholas;
Khong, Yee;
Barnett, Christopher P.;
Haan, Eric

Publication type:

Article

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2965, doi. 10.1002/ajmg.a.37857

By:

Moreno, Carolina Araujo;
Metze, Konradin;
Lomazi, Elizete Aparecida;
Bertola, Débora Romeo;
Barbosa, Ricardo Henrique Almeida;
Cosentino, Viviana;
Sobreira, Nara;
Cavalcanti, Denise Pontes

Publication type:

Article

Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3043, doi. 10.1002/ajmg.a.37858

By:

Silveira, Cynthia;
Leal, Gabriela F.;
Cavalcanti, Denise P.

Publication type:

Article

Dr. Edward Lammer: A man of great stature.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2769, doi. 10.1002/ajmg.a.37863

By:

Abrams, Liane J.

Publication type:

Article

Remembering Edward J. Lammer, MD.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2767, doi. 10.1002/ajmg.a.37865

By:

Finnell, Richard H.;
Shaw, Gary M.

Publication type:

Article

Genetic variation of FOXE1 and risk for orofacial clefts in a California population.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2770, doi. 10.1002/ajmg.a.37871

By:

Lammer, Edward J.;
Mohammed, Nebil;
Iovannisci, David M.;
Ma, Chen;
Lidral, Andrew C.;
Shaw, Gary M.

Publication type:

Article

Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2975, doi. 10.1002/ajmg.a.37872

By:

Loos, Elke;
Verhaert, Nicolas;
Willaert, Annelore;
Devriendt, Koenraad;
Swillen, Ann;
Hermans, Robert;
Op de Beeck, Katya;
Hens, Greet

Publication type:

Article

Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2777, doi. 10.1002/ajmg.a.37874

By:

Marini, Nicholas J.;
Yang, Wei;
Asrani, Kripa;
Witte, John S.;
Rine, Jasper;
Lammer, Edward J.;
Shaw, Gary M.

Publication type:

Article

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878

By:

Goldenberg, Alice;
Riccardi, Florence;
Tessier, Aude;
Pfundt, Rolph;
Busa, Tiffany;
Cacciagli, Pierre;
Capri, Yline;
Coutton, Charles;
Delahaye‐Duriez, Andree;
Frebourg, Thierry;
Gatinois, Vincent;
Guerrot, Anne‐Marie;
Genevieve, David;
Lecoquierre, Francois;
Jacquette, Aurélia;
Khau Van Kien, Philippe;
Leheup, Bruno;
Marlin, Sandrine;
Verloes, Alain;
Michaud, Vincent

Publication type:

Article

Gene variants as risk factors for gastroschisis.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2788, doi. 10.1002/ajmg.a.37883

By:

Padula, Amy M.;
Yang, Wei;
Schultz, Kathleen;
Tom, Lauren;
Lin, Bin;
Carmichael, Suzan L.;
Lammer, Edward J.;
Shaw, Gary M.

Publication type:

Article

Testing cell-free fetal DNA emerges as trisomy screen of choice.

Published in:: 2016
Publication type:: Other

In this issue.

Published in:: 2016
Publication type:: Other

Cover Image, Volume 170A, Number 11, November 2016.

Published in:: 2016
Publication type:: Other