Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 10

Results: 26

The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2591, doi. 10.1002/ajmg.a.63351

By:

Ng, Rowena;
Kalinousky, Allison;
Fahrner, Jill A.;
Bjornsson, Hans Tomas;
Harris, Jacqueline

Publication type:

Article

Novel homozygous LAMB1 in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2656, doi. 10.1002/ajmg.a.63349

By:

Toutouna, Louiza;
Beck‐Woedl, Stefanie;
Feige, Ursula;
Glaeser, Birgitta;
Komlosi, Katalin;
Eckenweiler, Matthias;
Luetzen, Niklas;
Haack, Tobias B.;
Fischer, Judith;
Bader, Ingrid;
Tzschach, Andreas

Publication type:

Article

Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2651, doi. 10.1002/ajmg.a.63348

By:

Hodapp, Matthew;
Hing, Anne V.;
Gallagher, Emily;
Blessing, Matthew;
Cunningham, Michael L.

Publication type:

Article

Neurofibromatosis‐ and schwannomatosis‐associated tumors: Approaches to genetic testing and counseling considerations.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2467, doi. 10.1002/ajmg.a.63346

By:

Goetsch Weisman, Allison;
Weiss McQuaid, Shelly;
Radtke, Heather B.;
Stoll, Jessica;
Brown, Bryce;
Gomes, Alicia

Publication type:

Article

Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2647, doi. 10.1002/ajmg.a.63345

By:

Ryan, Emory;
Tayebi, Nahid;
D'Souza, Andrea;
Lopez, Grisel;
Lichtenberg, Jens;
Sidransky, Ellen

Publication type:

Article

The importance of gynecological examination in adolescent girls and adult women with Prader–Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2585, doi. 10.1002/ajmg.a.63343

By:

Srebnik, Naama;
Kalifa, Tal Margaliot;
Hirsch, Harry J.;
Benarroch, Fortu;
Eldar‐Geva, Talia;
Gross‐Tsur, Varda

Publication type:

Article

Turner syndrome may be associated with hepatic adenoma.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2578, doi. 10.1002/ajmg.a.63341

By:

Ching, Alisha S.;
Zhang, Xiao;
Furuya, Katryn N.;
Benoy, Megan E.;
Bartlett, Heather L.

Publication type:

Article

Five siblings expand the spectrum of GPC6‐related skeletal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2571, doi. 10.1002/ajmg.a.63337

By:

Crenshaw, Molly M.;
Meyers, Mariana L.;
Brown, Kathleen;
Slegesky, Valerie;
Duis, Jessica;
Elias, Ellen R.;
Saenz, Margarita;
Shi, Wen;
Filmus, Jorge;
Meeks, Naomi J. L.

Publication type:

Article

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2558, doi. 10.1002/ajmg.a.63336

By:

Diaz Perez, Kimberly K.;
Chung, Sydney;
Head, S. Taylor;
Epstein, Michael P.;
Hecht, Jacqueline T.;
Wehby, George L.;
Weinberg, Seth M.;
Murray, Jeffrey C.;
Marazita, Mary L.;
Leslie, Elizabeth J.

Publication type:

Article

Proximal 1q21 duplication: A syndrome or a susceptibility locus?

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2551, doi. 10.1002/ajmg.a.63333

By:

Levy, Michal;
Shohat, Mordechai;
Kahana, Sarit;
Matar, Reut;
Klein, Kochav;
Fishman, Ifat Agmon;
Gurevitch, Merav;
Basel‐Salmon, Lina;
Maya, Idit

Publication type:

Article

The spectrum of hereditary neuromuscular disorders in the Pakistani population.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2536, doi. 10.1002/ajmg.a.63332

By:

Akbar, Fizza;
Saleem, Shafaq Muhammad;
Khalid, Ehtesham;
Ibrahim, Shahnaz;
Afroze, Bushra;
Kirmani, Salman;
Khan, Sara

Publication type:

Article

Missense variant in SRCAP with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2640, doi. 10.1002/ajmg.a.63329

By:

White‐Brown, Alexandre;
Choufani, Sanaa;
Weksberg, Rosanna;
Dyment, David

Publication type:

Article

Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers‐Danlos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2631, doi. 10.1002/ajmg.a.63328

By:

Furuhata‐Yoshimura, Megumi;
Yamaguchi, Tomomi;
Izu, Yayoi;
Kosho, Tomoki

Publication type:

Article

Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X‐linked retinoschisis from North India.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2524, doi. 10.1002/ajmg.a.63327

By:

Chatterjee, Souradip;
Gupta, Shashank;
Kirola, Laxmi;
Chandra, Abhishek;
Mukherjee, Ashim;
Mutsuddi, Mousumi

Publication type:

Article

Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2623, doi. 10.1002/ajmg.a.63326

By:

Salah, Somaya;
Jaber, Hiba;
Frumkin, Ayala;
Harel, Tamar

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2465, doi. 10.1002/ajmg.a.62832
Publication type:: Article

Incidence and outcome of arrhythmias and electrical disease in patients with Trisomy 18.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2518, doi. 10.1002/ajmg.a.63324

By:

Czosek, Richard J.;
Baskar, Shankar;
Mohan, Shaun;
Anderson, Jeffrey B.;
Spar, David S.

Publication type:

Article

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2493, doi. 10.1002/ajmg.a.63319

By:

Serigatto, Henrique Regonaschi;
Kokitsu‐Nakata, Nancy Mizue;
Vendramini‐Pittoli, Siulan;
Tonello, Cristiano;
Moura, Priscila Padilha;
Peixoto, Adriano Porto;
Gomes, Luiz Paulo;
Zechi‐Ceide, Roseli Maria

Publication type:

Article

PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2610, doi. 10.1002/ajmg.a.63313

By:

Grimes, H.;
Ansari, M.;
Ashraf, T.;
Cueto‐González, Anna Mª.;
Calder, A.;
Day, M.;
Fernandez Alvarez, P.;
Foster, A.;
Lahiri, N.;
Repetto, G. M.;
Scurr, I.;
Varghese, V.;
Low, Karen J.

Publication type:

Article

The contribution of mosaicism to genetic diseases and de novo pathogenic variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2482, doi. 10.1002/ajmg.a.63309

By:

Tinker, Rory J.;
Bastarache, Lisa;
Ezell, Kimberly;
Kobren, Shilpa Nadimpalli;
Esteves, Cecilia;
Rosenfeld, Jill A.;
Macnamara, Ellen F.;
Hamid, Rizwan;
Cogan, Joy D.;
Rinker, David;
Mukharjee, Souhrid;
Glass, Ian;
Dipple, Katrina;
Phillips, John A.

Publication type:

Article

Expansion of clinical and variant spectrum of EEF2‐related neurodevelopmental disorder: Report of two additional cases.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2602, doi. 10.1002/ajmg.a.63230

By:

Guo, Rose;
Rippert, Alyssa L.;
Cook, Edward B.;
Alves, Cesar Augusto P.;
Bird, Lynne M.;
Izumi, Kosuke

Publication type:

Article

Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2508, doi. 10.1002/ajmg.a.63320

By:

Nair, Divya;
Diaz‐Rosado, Abdias;
Varella‐Branco, Elisa;
Ramos, Igor;
Black, Aaron;
Angireddy, Rajesh;
Park, Joseph;
Murali, Svathi;
Yoon, Andrew;
Ciesielski, Brianna;
O'Brien, W. Timothy;
Passos‐Bueno, Maria Rita;
Bhoj, Elizabeth

Publication type:

Article

ACMG Seeks to Advance Equitable Access to Clinical Genetics/Genomics Testing.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2463, doi. 10.1002/ajmg.a.62831
Publication type:: Article

New Framework Released on Using Population Descriptors in Genetics and Genomics Research.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2462, doi. 10.1002/ajmg.a.62830
Publication type:: Article

Publication schedule for 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2461, doi. 10.1002/ajmg.a.62829
Publication type:: Article

Table of Contents, Volume 191A, Number 10, October 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2457, doi. 10.1002/ajmg.a.62828
Publication type:: Article