Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 3

Results: 33

Schuurs‐Hoeijmakers syndrome in two patients from Japan.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 341, doi. 10.1002/ajmg.a.9

By:

Hoshino, Yusuke;
Enokizono, Takashi;
Imagawa, Kazuo;
Tanaka, Ryuta;
Suzuki, Hisato;
Fukushima, Hiroko;
Arai, Junichi;
Sumazaki, Ryo;
Uehara, Tomoko;
Takenouchi, Toshiki;
Kosaki, Kenjiro

Publication type:

Article

Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 448, doi. 10.1002/ajmg.a.7

By:

Willaert, Annelore;
Van Eynde, Charlotte;
Verhaert, Nicolas;
Desloovere, Christian;
Vander Poorten, Vincent;
Devriendt, Koenraad;
Swillen, Ann;
Hens, Greet

Publication type:

Article

Neural Response to Language in Toddlers with Autism Associated with Altered Gene Expression: Widespread and coordinated patterns of gene expression activity in leukocytes was linked to neural responses to speech across the brain.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 336, doi. 10.1002/ajmg.a.61086
Publication type:: Article

First Risk Genes Identified for Attention Deficit Hyperactivity Disorder: An international collaboration has for the fi rst time identifi ed genetic variants that increase the risk of ADHD.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 334, doi. 10.1002/ajmg.a.61085
Publication type:: Article

Cover Image, Volume 179A, Number 3, March 2019.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. i, doi. 10.1002/ajmg.a.61077

By:

Haanpää, Maria K.;
Ng, Bobby G.;
Gallant, Natalie M.;
Singh, Kathryn E.;
Brown, Candida;
Kimonis, Virginia;
Freeze, Hudson H.;
Muller, Eric A.

Publication type:

Article

Congenital central hypoventilation syndrome: Severe disease caused by co‐occurrence of two PHOX2B variants inherited separately from asymptomatic family members.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 503, doi. 10.1002/ajmg.a.61047

By:

Sivan, Yakov;
Zhou, Amy;
Jennings, Lawrence J.;
Berry‐Kravis, Elizabeth M.;
Yu, Min;
Zhou, Lili;
Rand, Casey M.;
Weese‐Mayer, Debra E.

Publication type:

Article

ALG11‐CDG syndrome: Expanding the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 498, doi. 10.1002/ajmg.a.61046

By:

Haanpää, Maria K.;
Ng, Bobby G.;
Gallant, Natalie M.;
Singh, Kathryn E.;
Brown, Candida;
Kimonis, Virginia;
Freeze, Hudson H.;
Muller, Eric A.

Publication type:

Article

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 442, doi. 10.1002/ajmg.a.61045

By:

Wright, John Timothy;
Fete, Mary;
Schneider, Holm;
Zinser, Madelaine;
Koster, Maranke I.;
Clarke, Angus J.;
Hadj‐Rabia, Smail;
Tadini, Gianluca;
Pagnan, Nina;
Visinoni, Atila F.;
Bergendal, Birgitta;
Abbott, Becky;
Fete, Timothy;
Stanford, Clark;
Butcher, Clayton;
D'Souza, Rena N.;
Sybert, Virginia P.;
Morasso, Maria I.

Publication type:

Article

Prevalence and risk factors for Down syndrome: A hospital‐based single‐center study in Western Mexico.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 435, doi. 10.1002/ajmg.a.61044

By:

Corona‐Rivera, Jorge Román;
Martínez‐Macías, Francisco Javier;
Bobadilla‐Morales, Lucina;
Corona‐Rivera, Alfredo;
Peña‐Padilla, Christian;
Rios‐Flores, Izabel Maryalexandra;
Flores‐Guevara, Paola Alejandra;
Orozco‐Vela, Mireya;
Aranda‐Sánchez, Cristian Irela;
Brukman‐Jiménez, Sinhué Alejandro

Publication type:

Article

A case of broken bones and systems: The threat of irresponsible testimony.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 429, doi. 10.1002/ajmg.a.61043

By:

Shur, Natasha

Publication type:

Article

The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 423, doi. 10.1002/ajmg.a.61038

By:

Samango‐Sprouse, Carole;
Lasutschinkow, Patricia;
Powell, Sherida;
Sadeghin, Teresa;
Gropman, Andrea

Publication type:

Article

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 410, doi. 10.1002/ajmg.a.61037

By:

Muriello, Michael;
Kim, Alexander Y.;
Sondergaard Schatz, Krista;
Beck, Natalie;
Gunay‐Aygun, Meral;
Hoover‐Fong, Julie E.

Publication type:

Article

Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 494, doi. 10.1002/ajmg.a.61035

By:

Abdel‐Hamid, Mohamed S.;
El‐Dessouky, Sara H.;
Ateya, Mohamed I.;
Gaafar, Hassan M.;
Abdel‐Salam, Ghada M.H.

Publication type:

Article

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 486, doi. 10.1002/ajmg.a.61034

By:

Kantaputra, Piranit N.;
Smith, Lachlan J.;
Casal, Margret L.;
Kuptanon, Chulaluck;
Chang, Yu‐Cheng;
Nampoothiri, Sheela;
Paiyarom, Apichai;
Veerasakulwong, Thanat;
Trachoo, Objoon;
Ketudat Cairns, James R.;
Chinadet, Wannapa;
Tanpaiboon, Pranoot

Publication type:

Article

22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 404, doi. 10.1002/ajmg.a.61032

By:

Beaman, Glenda M.;
Woolf, Adrian S.;
Cervellione, Raimondo M.;
Keene, David;
Mushtaq, Imran;
Urquhart, Jill E.;
Stuart, Helen M.;
Newman, William G.

Publication type:

Article

Use of prescription opioid and other drugs among a cohort of persons with Ehlers–Danlos syndrome: A retrospective study.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 397, doi. 10.1002/ajmg.a.61031

By:

Schubart, Jane R.;
Schilling, Amber;
Schaefer, Eric;
Bascom, Rebecca;
Francomano, Clair

Publication type:

Article

The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 480, doi. 10.1002/ajmg.a.61030

By:

Arora, Veronica;
Puri, Ratna Dua;
Bhai, Pratibha;
Sharma, Nidhish;
Bijarnia–Mahay, Sunita;
Dimri, Nandita;
Baijal, Ashok;
Saxena, Renu;
Verma, Ishwar

Publication type:

Article

Solid tumor screening recommendations in trisomy 18.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 455, doi. 10.1002/ajmg.a.61029

By:

Farmakis, Shannon G.;
Barnes, Ann M.;
Carey, John C.;
Braddock, Stephen R.

Publication type:

Article

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 386, doi. 10.1002/ajmg.a.61025

By:

Alkhunaizi, Ebba;
Shuster, Shirley;
Shannon, Patrick;
Siu, Victoria Mok;
Darilek, Sandra;
Mohila, Carrie A;
Boissel, Sarah;
Ellezam, Benjamin;
Fallet‐Bianco, Catherine;
Laberge, Anne‐Marie;
Zandberg, Julianne;
Injeyan, Marie;
Hazrati, Lili‐Naz;
Hamdan, Fadi;
Chitayat, David

Publication type:

Article

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 344, doi. 10.1002/ajmg.a.61024

By:

Cleaver, Ruth;
Berg, Jonathan;
Craft, Emily;
Foster, Alison;
Gibbons, Richard J.;
Hobson, Emma;
Lachlan, Katherine;
Naik, Swati;
Sampson, Julian R.;
Sharif, Saba;
Smithson, Sarah;
Parker, Michael J.;
Tatton‐Brown, Katrina

Publication type:

Article

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 381, doi. 10.1002/ajmg.a.61020

By:

Van Batavia, Jason P.;
Crowley, Terrence B.;
Burrows, Evanette;
Zackai, Elaine H.;
Sanna‐Cherchi, Simone;
McDonald‐McGinn, Donna M.;
Kolon, Thomas F.

Publication type:

Article

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 373, doi. 10.1002/ajmg.a.61019

By:

Baker, Rachael A.;
Priestley, Jessica R. C.;
Wilstermann, Amy M.;
Reese, Kalina J.;
Mark, Paul R.

Publication type:

Article

Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 365, doi. 10.1002/ajmg.a.61017

By:

Hershkovitz, Tova;
Kurolap, Alina;
Ruhrman‐Shahar, Noa;
Monakier, Daniel;
DeChene, Elizabeth T.;
Peretz‐Amit, Gabriela;
Funke, Birgit;
Zucker, Nili;
Hirsch, Rafael;
Tan, Wen‐Hann;
Baris Feldman, Hagit

Publication type:

Article

Association of low‐frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 467, doi. 10.1002/ajmg.a.61002

By:

Shaffer, John R.;
LeClair, Jessica;
Carlson, Jenna C.;
Feingold, Eleanor;
Buxó, Carmen J.;
Christensen, Kaare;
Deleyiannis, Frederic W. B.;
Field, L. Leigh;
Hecht, Jacqueline T.;
Moreno, Lina;
Orioli, Ieda M.;
Padilla, Carmencita;
Vieira, Alexandre R.;
Wehby, George L.;
Murray, Jeffrey C.;
Weinberg, Seth M.;
Marazita, Mary L.;
Leslie, Elizabeth J.

Publication type:

Article

SOFT syndrome in a patient from Chile.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 338, doi. 10.1002/ajmg.a.61015

By:

Saida, Ken;
Silva, Sebastian;
Solar, Benjamin;
Fujita, Atsushi;
Hamanaka, Kohei;
Mitsuhashi, Satomi;
Koshimizu, Eriko;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Takata, Atsushi;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

Early demise of twins in a cohort of stillbirths and second trimester miscarriages.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 350, doi. 10.1002/ajmg.a.61014

By:

Korlesky, Colin;
McPherson, Elizabeth

Publication type:

Article

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 475, doi. 10.1002/ajmg.a.61007

By:

Handoko, Maureen;
Emrick, Lisa T.;
Rosenfeld, Jill A.;
Wang, Xia;
Tran, Alyssa A.;
Turner, Alicia;
Belmont, John W.;
Lee, Brendan H.;
Bacino, Carlos A.;
Chao, Hsiao‐Tuan

Publication type:

Article

Abnormal bone mineral content and density in people with tetrasomy 18p.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 417, doi. 10.1002/ajmg.a.61005

By:

Moreira, Alvaro;
Das, Hrishikesh;
Hasi‐Zogaj, Minire;
Soileau, Bridgette;
Hill, Annice;
Bruder, Jan M.;
Hale, Daniel E.;
Cody, Jannine D.

Publication type:

Article

Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers–Danlos syndrome: A randomized controlled trial.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 356, doi. 10.1002/ajmg.a.61016

By:

Reychler, Gregory;
Liistro, Giuseppe;
Piérard, Gérald E.;
Hermanns‐Lê, Trinh;
Manicourt, Daniel

Publication type:

Article

A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late‐onset generalized epilepsy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 507, doi. 10.1002/ajmg.a.40661

By:

Fraser, Harry;
Goldman, Amy;
Wright, Ronnie;
Banka, Siddharth

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 337, doi. 10.1002/ajmg.a.40441
Publication type:: Article

Publication schedule for 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 333, doi. 10.1002/ajmg.a.40440
Publication type:: Article

Table of Contents, Volume 179A, Number 3, March 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 329, doi. 10.1002/ajmg.a.40439
Publication type:: Article