Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 4

Results: 46

Whole‐exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1214, doi. 10.1002/ajmg.a.62641

By:

Yang, Zhihua;
Cao, Jun;
Song, Yucen;
Li, Suyi;
Jiao, Zhihui;
Ren, Shumin;
Gao, Xu;
Zhang, Suqin;
Liu, Jingjing;
Chen, Yibing

Publication type:

Article

Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1204, doi. 10.1002/ajmg.a.62640

By:

Schubart, Jane R.;
Mills, Susan E.;
Schaefer, Eric W.;
Bascom, Rebecca;
Francomano, Clair A.

Publication type:

Article

Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1193, doi. 10.1002/ajmg.a.62639

By:

Alexandrou, Eirene;
Dauber, Andrew;
Tyzinski, Leah;
Hwa, Vivian;
Andrew, Melissa;
Kim, Hee;
Elangovan, Stacey;
Gubanich, Paul;
Taylor‐Haas, Jeffery A.;
Paterno, Mark;
Backeljauw, Philippe

Publication type:

Article

The diagnostic utility of exome‐based carrier screening in families with a positive family history.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1323, doi. 10.1002/ajmg.a.62633

By:

Kotecha, Udhaya Hardik;
Mistri, Mehul;
Rayabarapu, Pranavchand;
Shah, Parth;
Shah, Nidhi

Publication type:

Article

Growth charts for Mexican children with Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1170, doi. 10.1002/ajmg.a.62637

By:

Flores Arizmendi, Karla Adney;
García De La Puente, Silvestre;
González Navarro, Mauricio;
Bonillo Suarez, Lelia;
De León Becerra, Ana Gabriela;
Valderrama Hernández, Alejandro;
Santos Ríos, Rubi;
Altamirano Bustamante, Nelly

Publication type:

Article

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1311, doi. 10.1002/ajmg.a.62636

By:

Quental, Rita;
Gonçalves, Daniel;
Rodrigues, Esmeralda;
Serrano Gonçalves, Edite;
Oliveira, Jorge;
Parente Freixo, João;
Leão, Miguel

Publication type:

Article

Family perspectives on gaps in health care for people with Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1160, doi. 10.1002/ajmg.a.62635

By:

King, Emily;
Remington, Mason;
Berger, Heidi

Publication type:

Article

Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1307, doi. 10.1002/ajmg.a.62634

By:

Peart, Lé Shon;
Gonzalez, Joanna;
Bivona, Stephanie;
Latchman, Kumarie;
Torres, Leonardo;
Tekin, Mustafa

Publication type:

Article

The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1184, doi. 10.1002/ajmg.a.62638

By:

Ogura, Yurie;
Uehara, Tomoko;
Ujibe, Kota;
Yoshihashi, Hiroshi;
Yamada, Mamiko;
Suzuki, Hisato;
Takenouchi, Toshiki;
Kosaki, Kenjiro;
Hirata, Hiromi

Publication type:

Article

Congenital heart defects in molecularly confirmed KBG syndrome patients.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1149, doi. 10.1002/ajmg.a.62632

By:

Digilio, Maria Cristina;
Calcagni, Giulio;
Gnazzo, Maria;
Versacci, Paolo;
Dentici, Maria Lisa;
Capolino, Rossella;
Sinibaldi, Lorenzo;
Baban, Anwar;
Putotto, Carolina;
Alfieri, Paolo;
Unolt, Marta;
Lepri, Francesca R.;
Alesi, Viola;
Genovese, Silvia;
Novelli, Antonio;
Marino, Bruno;
Dallapiccola, Bruno

Publication type:

Article

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1299, doi. 10.1002/ajmg.a.62631

By:

Sibbin, Kristina;
Yap, Patrick;
Nyaga, Denis;
Heller, Raoul;
Evans, Stephen;
Strachan, Kate;
Alburaiky, Salam;
Nguyen, Han M.;
Hermann‐Le Denmat, Sylvie;
Ganley, Austen R. D.;
O'Sullivan, Justin M.;
Bloomfield, Frank H.

Publication type:

Article

Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1317, doi. 10.1002/ajmg.a.62630

By:

Gupta, Neerja;
Kaur, Ravneet;
Phadke, Shubha;
Sharma, Pankaj;
Nampoothiri, Sheela;
Saxena, Deepti;
Kabra, Madhulika

Publication type:

Article

The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1293, doi. 10.1002/ajmg.a.62629

By:

Katata, Yu;
Uneoka, Saki;
Saijyo, Naoya;
Aihara, Yu;
Miyazoe, Takamitsu;
Koyamaishi, Shun;
Oikawa, Yoshitsugu;
Ito, Yuya;
Abe, Yu;
Numata‐Uematsu, Yurika;
Takayama, Jun;
Kikuchi, Atsuo;
Tamiya, Gen;
Uematsu, Mitsugu;
Kure, Shigeo

Publication type:

Article

Efficacy of virtual and asynchronous teaching of computer‐assisted diagnosis of genetic diseases seen in clinics.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1142, doi. 10.1002/ajmg.a.62628

By:

Hash, Mary Grace;
Walker, Philip D.;
Laferriere, Heather E.;
Melton, Leeanna;
Heller, Lauren S.;
Phillips, John A.

Publication type:

Article

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1124, doi. 10.1002/ajmg.a.62627

By:

Pangilinan, Faith;
Watkins, David;
Bernard, David;
Chen, Yue;
Dong, Ningzheng;
Wu, Qingyu;
Ozel‐Abaan, Hatice;
Kaur, Manjit;
Caggana, Michele;
Morrissey, Mark;
Browne, Marilyn L.;
Mills, James L.;
Van Ryzin, Carol;
Shchelochkov, Oleg;
Sloan, Jennifer;
Venditti, Charles P.;
Sarafoglou, Kyriakie;
Rosenblatt, David S.;
Kay, Denise M.;
Brody, Lawrence C.

Publication type:

Article

Delayed diagnosis and racial bias in children with genetic conditions.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1118, doi. 10.1002/ajmg.a.62626

By:

Omorodion, Jacklyn;
Dowsett, Leah;
Clark, Robin D.;
Fraser, Jamie;
Abu‐El‐Haija, Aya;
Strong, Alanna;
Wojcik, Monica H.;
Bryant, Allison S.;
Gold, Nina B.

Publication type:

Article

Healthcare utilization among youth with Ehlers–Danlos syndrome hypermobile type.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1109, doi. 10.1002/ajmg.a.62625

By:

Williams, Sara E.;
Tran, Susan T.;
Lynch‐Jordan, Anne;
Goldschneider, Kenneth R.;
Ting, Tracy V.;
Kashikar‐Zuck, Susmita;
Neilson, Derek

Publication type:

Article

FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1334, doi. 10.1002/ajmg.a.62624

By:

Girardi, Ana Cristina De Sanctis;
van Opstal Takahashi, Vanessa Naomi;
Vadasz, Estevão;
Costa, Claudia Ismania Samogi;
Zachi, Elaine Cristina;
Vianna‐Morgante, Angela M.;
Passos‐Bueno, Maria Rita

Publication type:

Article

Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1102, doi. 10.1002/ajmg.a.62623

By:

Pappas, Kara B.;
Younan, Marissa;
Conway, Robert

Publication type:

Article

Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1287, doi. 10.1002/ajmg.a.62622

By:

Venkatapuram, Vijaya Sree;
Aggarwal, Shagun;
Kulkarni, Aditya Deepak;
Vineeth, Venugopal Satidevi;
Bhikaji Dalal, Ashwin;
Bhat, Venkatraman;
Kiran, Lavanya;
Patil, Siddaramappa Jagdish

Publication type:

Article

Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.35341.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1341, doi. 10.1002/ajmg.a.62621
Publication type:: Article

Craniosynostosis is a feature of Costello syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1280, doi. 10.1002/ajmg.a.62620

By:

Weaver, K. Nicole;
Care, Marguerite;
Wakefield, Emily;
Zarate, Yuri A.;
Skoch, Jesse;
Gripp, Karen W.;
Prada, Carlos E.

Publication type:

Article

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1088, doi. 10.1002/ajmg.a.62619

By:

Halley, Meghan C.;
Young, Jennifer L.;
Fernandez, Liliana;
Kohler, Jennefer N.;
Bernstein, Jonathan A.;
Wheeler, Matthew T.;
Tabor, Holly K.

Publication type:

Article

Corrigendum Presacral Neuroendocrine Tumors Associated with the Currarino Syndrome. Am J Med Genet A. 2021;185(5):1582–1588. Doi:10.1002/ajmg.a.62145.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1340, doi. 10.1002/ajmg.a.62618
Publication type:: Article

Corrigendum The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort. Am J Med Genet A. 2021;185(12):3793–3803. Doi:10.1002/ajmg.a.62452.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1339, doi. 10.1002/ajmg.a.62617
Publication type:: Article

Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1083, doi. 10.1002/ajmg.a.62616

By:

Schwarz, Martin;
Ryba, Lukáš;
Křepelová, Anna;
Moslerová, Veronika;
Zelinová, Michaela;
Turnovec, Marek;
Martinková, Júlia;
Kratochvílová, Lenka;
Drahanský, Martin;
Macek, Milan;
Havlovicová, Markéta

Publication type:

Article

A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1075, doi. 10.1002/ajmg.a.62614

By:

Ain ul Batool, Syeda;
Almatrafi, Ahmad;
Fadhli, Fatima;
Alluqmani, Majed;
Sadia;
Ali, Ghazanfar;
Basit, Sulman

Publication type:

Article

Rare presentation of FDX2‐related disorder and untargeted global metabolomics findings.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1239, doi. 10.1002/ajmg.a.62608

By:

Aggarwal, Anjali;
Pillai, Nishitha R.;
Billington, Charles J.;
Schema, Lynn;
Berry, Susan A.

Publication type:

Article

Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1259, doi. 10.1002/ajmg.a.62612

By:

Vaughan, David P.;
Costello, Daniel J.

Publication type:

Article

Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1065, doi. 10.1002/ajmg.a.62611

By:

Corder, Megan L.;
Berland, Siren;
Førsvoll, Jostein A.;
Banerjee, Indraneel;
Murray, Phil;
Bratland, Eirik;
Gokhale, David;
Houge, Gunnar;
Douzgou, Sofia

Publication type:

Article

A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1251, doi. 10.1002/ajmg.a.62610

By:

Asif, Maria;
Mocanu, Ionut Dragos;
Abdullah, Uzma;
Höhne, Wolfgang;
Altmüller, Janine;
Makhdoom, Ehtisham Ul Haq;
Thiele, Holger;
Baig, Shahid Mahmood;
Nürnberg, Peter;
Graul‐Neumann, Luitgard;
Hussain, Muhammad Sajid

Publication type:

Article

A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1245, doi. 10.1002/ajmg.a.62609

By:

Sakaria, Rishika P.;
Fonville, Megan P.;
Peravali, Silpa;
Zaveri, Parul G.;
Mroczkowski, Henry J.;
Caron, Elena;
Weems, Mark F.

Publication type:

Article

Kohlschütter–Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1263, doi. 10.1002/ajmg.a.62613

By:

Liepina, Lelde;
Kalnina, Marija Luize;
Micule, Ieva;
Gailite, Linda;
Rots, Dmitrijs;
Kalnina, Julija;
Strautmanis, Jurgis;
Celmina, Marta

Publication type:

Article

Use of the Vineland‐3, a measure of adaptive functioning, in CLN3.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1056, doi. 10.1002/ajmg.a.62607

By:

Dang Do, An N.;
Thurm, Audrey E.;
Farmer, Cristan A.;
Soldatos, Ariane G.;
Chlebowski, Colby E.;
O'Reilly, Julie K.;
Porter, Forbes D.

Publication type:

Article

Corrigendum Parental mosaicism in de novo neurodevelopmental diseases. Am J Med Genet A. 2021;185A(7):2119–2125. Doi:10.1002/ajmg.a.62174.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1338, doi. 10.1002/ajmg.a.62606
Publication type:: Article

Improving survival in patients with trisomy 18.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1048, doi. 10.1002/ajmg.a.62605

By:

Tamaki, Shoko;
Iwatani, Sota;
Izumi, Ayako;
Hirayama, Kentaro;
Kataoka, Dai;
Ohyama, Shohei;
Ikuta, Toshihiko;
Takeoka, Emiko;
Matsui, Sachiko;
Mimura, Hitomi;
Minamikawa, Shogo;
Nakagishi, Yasuo;
Yoshimoto, Seiji;
Nakao, Hideto

Publication type:

Article

An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1040, doi. 10.1002/ajmg.a.62604

By:

Curtin, Andrea;
Mannion, Arlene;
Shprintzen, Robert J.;
Whelan, Sally;
Coyne, Rory;
Leader, Geraldine

Publication type:

Article

Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1233, doi. 10.1002/ajmg.a.62603

By:

Iznardo, Helena;
Bredrup, Cecilie;
Bernal, Sara;
Gladkauskas, Titas;
Mascaró, José‐Manuel;
Roé, Esther;
Baselga, Eulalia

Publication type:

Article

Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1226, doi. 10.1002/ajmg.a.62602

By:

Çepni, Ece;
Satkın, Nihan Bilge;
Moheb, Lia Abbasi;
Rocha, Maria Eugenia;
Kayserili, Hülya

Publication type:

Article

Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1029, doi. 10.1002/ajmg.a.62601

By:

Budimirovic, Dejan B.;
Protic, Dragana D.;
Delahunty, Carol M.;
Andrews, Howard F.;
Choo, Tse‐Hwei;
Xu, Qing;
Berry‐Kravis, Elizabeth;
Kaufmann, Walter E.

Publication type:

Article

Cover Image, Volume 188A, Number 4, April 2022.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. i, doi. 10.1002/ajmg.a.62288
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1027, doi. 10.1002/ajmg.a.62287
Publication type:: Article

Implementation Strategies to Address Suboptimal Genetic Referral Practices.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1025, doi. 10.1002/ajmg.a.62286
Publication type:: Article

Publication schedule for 2022.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1023, doi. 10.1002/ajmg.a.62284
Publication type:: Article

Predictive Model Detects Candidates for Genetic Testing.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1024, doi. 10.1002/ajmg.a.62285
Publication type:: Article

Table of Contents, Volume 188A, Number 4, April 2022.

Published in:: American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1017, doi. 10.1002/ajmg.a.62283
Publication type:: Article