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