Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 9

Results: 29

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2440, doi. 10.1002/ajmg.a.63316
By:
- Remmelzwaal, P. Christian;
- Verhagen, Martijn V.;
- Jongbloed, Jan D. H.;
- van den Akker, Peter C.;
- Veenstra‐Knol, Hermine E.;
- Hitzert, Marrit M.
Publication type:
Article
Exploring collaboration models between geneticists and intensivists for implementing rapid genome sequencing in critical care settings.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2290, doi. 10.1002/ajmg.a.63318
By:
- Fishler, Kristen P.;
- Steber, Hannah S.;
- Brunelli, Luca;
- Shope, Ronald J.
Publication type:
Article
Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2411, doi. 10.1002/ajmg.a.63317
By:
- Ekure, Ekanem N.;
- Musa, Kareem O.;
- Ulonnam, Ngozi;
- Kruszka, Paul;
- Muenke, Maximilian;
- Adeyemo, Adebowale A.
Publication type:
Article
Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2376, doi. 10.1002/ajmg.a.63322
By:
- Khan, Sheraz;
- Focșa, Ina Ofelia;
- Budișteanu, Magdalena;
- Stoica, Cristina;
- Nedelea, Florina;
- Bohîlțea, Laurențiu;
- Caba, Lavinia;
- Butnariu, Lăcrămioara;
- Pânzaru, Monica;
- Rusu, Cristina;
- Jurcă, Claudia;
- Chirita‐Emandi, Adela;
- Bănescu, Claudia;
- Abbas, Wasim;
- Sadeghpour, Azita;
- Baig, Shahid Mahmood;
- Bălgrădean, Mihaela;
- Davis, Erica E.
Publication type:
Article
Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2422, doi. 10.1002/ajmg.a.63321
By:
- Corona‐Rivera, Jorge Román;
- Barrios‐Prieto, Ernestro;
- Rivera‐Ramírez, Berenice;
- Sánchez‐Uribe, Enndy Hollyver;
- Cortés‐Pastrana, Rocío Carolina;
- Aguilera, Cristhian Ernesto Ramírez;
- de Anda‐Camacho, Roberto Gerardo;
- Peña‐Padilla, Christian;
- Bobadilla‐Morales, Lucina;
- Corona‐Rivera, Alfredo
Publication type:
Article
A case of LSS‐associated congenital nuclear cataract with hypotrichosis and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2398, doi. 10.1002/ajmg.a.63355
By:
- Guo, Dongwei;
- Zhang, Qingjiong
Publication type:
Article
Correction to "A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature".
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2454, doi. 10.1002/ajmg.a.63352
Publication type:
Article
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2392, doi. 10.1002/ajmg.a.63350
By:
- Sivakumaran, Theru A.;
- Grebe, Theresa A.
Publication type:
Article
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2451, doi. 10.1002/ajmg.a.63347
By:
- Thys, Liene;
- Beysen, Diane;
- Jansen, Anna;
- Janssens, Katrien;
- Meuwissen, Marije
Publication type:
Article
Associated anomalies in Pierre Robin sequence.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2312, doi. 10.1002/ajmg.a.63344
By:
- Stoll, Claude;
- Alembick, Y.;
- Roth, M. P.
Publication type:
Article
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2354, doi. 10.1002/ajmg.a.63342
By:
- Almenabawy, Nihal;
- Ramadan, Manal;
- Kamel, Mona;
- Mahmoud, Iman G.;
- Amer, Fawzia;
- Shaheen, Yara;
- Elnaggar, Walaa;
- Selim, Laila
Publication type:
Article
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2428, doi. 10.1002/ajmg.a.63340
By:
- Kárteszi, Judit;
- Ziegler, Alban;
- Tihanyi, Mariann;
- Elmont, Beatrix;
- Zhang, Yuebo;
- Patócs, Barbara;
- Molnár, Mária Judit;
- Méhes, Gábor;
- Wells, Kirsty;
- Jakus, Rita;
- Bessenyei, Beáta;
- Ranatunga, Wasantha;
- Morava, Éva
Publication type:
Article
Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2329, doi. 10.1002/ajmg.a.63339
By:
- El Dessouki, Dina;
- Amr, Khalda;
- Kholoussi, Naglaa;
- Rady, Hanaa M.;
- Temtamy, Samia Ali;
- Abdou, Manal M. S.;
- Aglan, Mona
Publication type:
Article
A nonsense variant in the N‐terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2402, doi. 10.1002/ajmg.a.63338
By:
- Varland, Sylvia;
- Brønstad, Kirsten Marie;
- Skinner, Stephanie J.;
- Arnesen, Thomas
Publication type:
Article
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2274, doi. 10.1002/ajmg.a.63335
By:
- Saadi, Abdelkrim;
- Navarro, Claire;
- Ozalp, Ozge;
- Lourenco, Charles Marques;
- Fayek, Racha;
- Da Silva, Nathalie;
- Chaouch, Athmane;
- Benahmed, Meryem;
- Kubisch, Christian;
- Munnich, Arnold;
- Lévy, Nicolas;
- Roll, Patrice;
- Pacha, Lamia Ali;
- Chaouch, Malika;
- Lessel, Davor;
- De Sandre‐Giovannoli, Annachiara
Publication type:
Article
Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2346, doi. 10.1002/ajmg.a.63334
By:
- Bouman, Arianne;
- Bouwmeester, Romy N.;
- van Vlimmeren, Leo A.;
- Burger, Pauline;
- Mandel, Jean‐Louis;
- de Vries, Bert B. A.;
- de Kleuver, Marinus;
- Klein, Willemijn M.;
- Geelen, Joyce M.;
- Koolen, David A.
Publication type:
Article
Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2433, doi. 10.1002/ajmg.a.63331
By:
- Miyake, Christina Y.;
- Ehsan, Saad A.;
- Zhang, Lilei;
- Mackenzie, Samuel J.;
- Azamian, Mahshid S.;
- Scott, Daryl A.;
- Hernandez‐Garcia, Andres;
- Lalani, Seema R.
Publication type:
Article
An exploratory study of plasma ceramides in comorbidities in Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2300, doi. 10.1002/ajmg.a.63325
By:
- Worley, Gordon;
- Byeon, Seul Kee;
- Smith, P. Brian;
- Hart, Sarah J.;
- Young, Sarah P.;
- Pandey, Akhilesh;
- Kishnani, Priya S.
Publication type:
Article
A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2267, doi. 10.1002/ajmg.a.63323
By:
- Rork, W. Conor;
- Hertz, Alyssa G.;
- Wiese, Andrew D.;
- Kostick, Kristin M.;
- Nguyen, Dianne;
- Schneider, Sophie C.;
- Shepherd, Whitney S.;
- Cho, Hannah;
- Lee, Brendan;
- Sutton, V. Reid;
- Nagamani, Sandesh CS;
- Rauch, Frank;
- Glorieux, Francis;
- Retrouvey, Jean‐Marc;
- Lee, Janice;
- Esposito, Paul;
- Wallace, Maegen;
- Bober, Michael;
- Eyre, David;
- Gomez, Danielle
Publication type:
Article
Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2324, doi. 10.1002/ajmg.a.63314
By:
- Scheuerle, Angela E.;
- Ni, Min;
- Ahmad, Aaliya A.;
- Timmons, Charles F.;
- Rakheja, Dinesh;
- Gordon, Erin E.;
- Boothe, Megan
Publication type:
Article
Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2364, doi. 10.1002/ajmg.a.63311
By:
- Kierzkowska, Ola;
- Sarino, Kathleen;
- Carter, Drake;
- Guo, Lily;
- Marchi, Elaine;
- Voronova, Anastassia;
- Lyon, Gholson J.
Publication type:
Article
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2446, doi. 10.1002/ajmg.a.63310
By:
- Werren, Elizabeth A.;
- Srinivasan, Varunvenkat M.;
- Gowda, Vykuntaraju K.;
- Pandey, Akanksha;
- Vaish, Saurabh;
- Kabbur, Anusha Raj;
- Nandeesh, Bevinahalli N.;
- Srivastava, Anshika
Publication type:
Article
An in‐frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D‐related neurodevelopmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2416, doi. 10.1002/ajmg.a.63307
By:
- Alhajaj, Ghadd;
- Lacroix, Caroline;
- Trakadis, Yannis;
- Garfinkle, Jarred;
- Srour, Myriam
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2263, doi. 10.1002/ajmg.a.62827
Publication type:
Article
Polygenic Scores Fall Short on Diversity.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2261, doi. 10.1002/ajmg.a.62826
Publication type:
Article
Health Insurance Denials Limit Access to Genetic Testing.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2260, doi. 10.1002/ajmg.a.62825
Publication type:
Article
Publication schedule for 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2259, doi. 10.1002/ajmg.a.62824
Publication type:
Article
Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2337, doi. 10.1002/ajmg.a.63306
By:
- Bönnemann, Carsten G.;
- Krishnamoorthy, Kalpathy S.;
- Johnston, Jennifer J.;
- Lee, Mary M.;
- Fowler, Darren J.;
- Biesecker, Leslie G.;
- Holmes, Lewis B.
Publication type:
Article
Table of Contents, Volume 191A, Number 9, September 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2255, doi. 10.1002/ajmg.a.62823
Publication type:
Article