Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 12

Results: 25

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2806, doi. 10.1002/ajmg.a.63408
By:
- Peled, Alon;
- Sarig, Ofer;
- Mohamad, Janan;
- Eskin‐Schwartz, Marina;
- Vodo, Dan;
- Bochner, Ron;
- Malchin, Natalya;
- Isakov, Ofer;
- Shomron, Noam;
- Fainberg, Gilad;
- Bertolini, Marta;
- Paus, Ralf;
- Sprecher, Eli
Publication type:
Article
Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin‐2 (FDX2) gene.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2843, doi. 10.1002/ajmg.a.63368
By:
- Gkiourtzis, Nikolaos;
- Tramma, Despoina;
- Papadopoulou‐Legbelou, Kyriaki;
- Moutafi, Maria;
- Evangeliou, Athanasios
Publication type:
Article
Atlantoaxial instability associated with ALDH18A1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2898, doi. 10.1002/ajmg.a.63388
By:
- Lucas, Alexandra T.;
- Lin, Angela E.;
- Cohen, Andrew;
- Muñoz, William;
- Kahle, Kristopher T.;
- Shin, John H.;
- Buch, Karen;
- Sahai, Inderneel;
- Carroll, Ryan W.
Publication type:
Article
Are CUL3 variants an underreported cause of congenital heart disease?
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2903, doi. 10.1002/ajmg.a.63387
By:
- Di Francesco, Daniela;
- Swenerton, Anne;
- Li, Wenhui Laura;
- Dunham, Christopher;
- Hendson, Glenda;
- Boerkoel, Cornelius F.
Publication type:
Article
A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2873, doi. 10.1002/ajmg.a.63383
By:
- Furuta, Yutaka;
- Nelson, Erica T.;
- Neumann, Serena M.;
- Phillips, John A.;
- Hamid, Rizwan;
- Tinker, Rory J.;
- Cogan, Joy D.;
- Rives, Lynette;
- Newman, John H.
Publication type:
Article
Further characterization of CEP85L‐associated lissencephaly type 10: Report of a three‐generation family and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2878, doi. 10.1002/ajmg.a.63380
By:
- Leduc‐Pessah, Heather;
- White‐Brown, Alexandre;
- Miller, Elka;
- McMillan, Hugh J.;
- Boycott, Kym M.
Publication type:
Article
Saliva DNA: An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2913, doi. 10.1002/ajmg.a.63400
By:
- Wright, Dale Cameron;
- Baluyot, Maria Lourdes;
- Carmichael, Johanna;
- Darmanian, Artur;
- Jose, Ngaire;
- Ngo, Con;
- Heaps, Luke St;
- Yendle, Amber;
- Holman, Katherine;
- Ziso, Sylvia;
- Khan, Feroza;
- Masi, Anne;
- Silove, Natalie;
- Eapen, Valsa
Publication type:
Article
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2831, doi. 10.1002/ajmg.a.63367
By:
- Sajan, Samin A.;
- Brown, Carolyn M.;
- Davis‐Keppen, Laura;
- Burns, Kaitlyn;
- Royer, Erin;
- Coleman, Jessica A. Cooley;
- Hilton, Benjamin A.;
- DuPont, Barbara R.;
- Perry, Denise L.;
- Taft, Ryan J.;
- Kesari, Akanchha
Publication type:
Article
The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2890, doi. 10.1002/ajmg.a.63378
By:
- Strasser, Lauren;
- Doja, Asif;
- Davila, Jorge;
- Chakraborty, Pranesh;
- Bourque, Danielle K.
Publication type:
Article
Congenital diaphragmatic hernia in siblings with PIGA‐related congenital disorder of glycosylation.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2860, doi. 10.1002/ajmg.a.63373
By:
- Crenshaw, Molly M.;
- Thompson, Lauren;
- Piqué, Daniel G.;
- Micke, Kestutis;
- Saenz, Margarita;
- Baker, Peter R.
Publication type:
Article
An incidental finding in prenatal exome sequencing—A case study and review of the clinical and ethical considerations.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2856, doi. 10.1002/ajmg.a.63372
By:
- Rudd, Ignatius;
- Gill, Gulvir;
- Buckley, Michael;
- Downie, Lilian
Publication type:
Article
A Noonan‐like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2837, doi. 10.1002/ajmg.a.63370
By:
- Chida‐Nagai, Ayako;
- Tonoki, Hidefumi;
- Makita, Naomasa;
- Ishiyama, Hiroyuki;
- Ihara, Masafumi;
- Maruo, Yuji;
- Tsujioka, Takao;
- Sasaki, Daisuke;
- Izumi, Gaku;
- Yamazawa, Hirokuni;
- Kato, Nobuyasu;
- Ito, Masaki;
- Fujimura, Miki;
- Sasaki, Osamu;
- Takeda, Atsuhito
Publication type:
Article
Thiamine metabolism dysfunction syndrome 5 (THMD5) mimicking acute disseminated encephalomyelitis.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2868, doi. 10.1002/ajmg.a.63376
By:
- Thompson, Zachary E.;
- Boyd, Natalie K.;
- Khoshnood, Mellad M.;
- Santoro, Jonathan D.
Publication type:
Article
A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2884, doi. 10.1002/ajmg.a.63374
By:
- Coleman, John;
- Kavanagh, Karl;
- Kesterton, Ian;
- Hegarty, Ann‐Marie;
- O'Connell, Susan M.;
- Lynch, Sally Ann
Publication type:
Article
Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2825, doi. 10.1002/ajmg.a.63366
By:
- Koti, Ajay S.;
- Lanis, Aviya;
- Finlayson, Samuel;
- Canny, Susan;
- Feldman, Elana A.;
- Miller, Danny E.;
- Rosenwasser, Natalie;
- Scott, Abbey A.;
- Wong, Stephen C.;
- Feldman, Kenneth W.
Publication type:
Article
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2908, doi. 10.1002/ajmg.a.63365
By:
- Farrow, Emily;
- Jay, Allison;
- Means, John;
- Younger, Scott;
- Biswell, Rebecca;
- Koseva, Boryana;
- Thiffault, Isabelle;
- Pastinen, Tomi;
- Pappas, Kara;
- Toriello, Helga
Publication type:
Article
A novel pathogenic variant c.262delA in PBX1 causing oligomeganephronia identified using whole‐exome sequencing and a literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2850, doi. 10.1002/ajmg.a.63364
By:
- Hu, Jiaxin;
- Yang, Huihui;
- Wang, Xiaowen;
- Ding, Juanjuan;
- Liao, Panli;
- Zhu, Gaohong;
- Qi, Chang
Publication type:
Article
A 22q13.1 duplication in mosaicism including SOX10.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2813, doi. 10.1002/ajmg.a.63362
By:
- Bertani‐Torres, William;
- Serey‐Gaut, Margaux;
- de Oliveira, Judite;
- Bole, Christine;
- Parisot, Mélanie;
- Nistschké, Patrick;
- Maurin, Marie‐Laure;
- Lapierre, Jean‐Michel;
- Loundon, Natalie;
- Belhous, Kahina;
- Bondurand, Nadège;
- Marlin, Sandrine;
- Pingault, Véronique
Publication type:
Article
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2819, doi. 10.1002/ajmg.a.63361
By:
- Wang, Heng;
- Ruan, Gechong;
- Yang, Shan;
- Li, Hui;
- Sun, Zixi;
- Tian, Bowen;
- Yan, Pengguang;
- Li, Yue;
- Yang, Hong;
- Zhong, Yong;
- Qian, Jiaming
Publication type:
Article
The importance of age‐specific gene expression.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2801, doi. 10.1002/ajmg.a.63354
By:
- Hall, Judith G.
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2800, doi. 10.1002/ajmg.a.62842
Publication type:
Article
Sequencing the Y Chromosome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2798, doi. 10.1002/ajmg.a.62841
Publication type:
Article
Neolithic Community Revealed Using Ancient DNA Data.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2797, doi. 10.1002/ajmg.a.62840
Publication type:
Article
Publication schedule for 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2796, doi. 10.1002/ajmg.a.62839
Publication type:
Article
Table of Contents, Volume 191A, Number 12, December 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2793, doi. 10.1002/ajmg.a.62838
Publication type:
Article