Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 11

Results: 35

Table of Contents, Volume 194A, Number 11, November 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
Are SCN2A‐related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63813
By:
- Brunetti, Sara;
- Muda, Alice;
- Conti, Chiara;
- Gazzina, Stefano;
- Accorsi, Patrizia;
- Giordano, Lucio
Publication type:
Article
Expansion of the phenotypic spectrum of KARS1‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63811
By:
- Bejma, Taylor A.;
- Beidler, Willa S.;
- VanSickle, Elizabeth A.;
- Prokop, Jeremy W.;
- Brown, Wendy T.;
- Scheurer‐Monaghan, Andrea;
- Rossetti, Linda Z.
Publication type:
Article
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63810
By:
- Draaisma, Fieke;
- Leenders, Erika K. S. M.;
- Erasmus, Corrie E.;
- Braakman, Hilde M. H.;
- Burgers, Melanie C. J.;
- Coppens, Catelijne H.;
- Rinne, Tuula;
- Zenker, Martin;
- Tartaglia, Marco;
- Reintjes, Wesley;
- Voermans, Nicol C.;
- van Engelen, Baziel G. M.;
- van Alfen, Nens;
- Draaisma, Jos M. T.
Publication type:
Article
A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63809
By:
- Mathew, Rohan Peter;
- Ranya Raghavendra, Prashanth;
- Disha, Biradar;
- Dalal, Ashwin;
- Govindaraj, Periyasamy
Publication type:
Article
EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63808
By:
- Palumbo, Francesca;
- Moglia, Cristina;
- Romano, Alessandro;
- Tessa, Alessandra;
- Canosa, Antonio;
- Calvo, Andrea;
- Gallone, Salvatore
Publication type:
Article
Erratum to "Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases".
Published in:
2024
Publication type:
Correction Notice
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63806
By:
- Demir, Oguzhan;
- Saglam, Kubra Adanur;
- Yilmaz, Mustafa;
- Apuhan, Tuna;
- Cebi, Alper Han;
- Turkyilmaz, Ayberk
Publication type:
Article
Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63805
By:
- Lin, Siying;
- Schiff, Elena;
- Arno, Gavin;
- Mahroo, Omar A.;
- Webster, Andrew R.
Publication type:
Article
COL4A1‐related disorder as a mimic of congenital TORCHES infection—Expanding the clinical, neuroimaging and genotype spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63804
By:
- Kukulka, Natalie A.;
- Zarei, Sanam;
- Glass, Joshua;
- Bouska, Cecilia;
- Schroder, Jason;
- Sen, Kuntal
Publication type:
Article
Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63803
By:
- Uehara, Takeshi;
- Seki, Eijun;
- Nonoda, Yutaka;
- Kumaki, Tatsuro;
- Tsuyusaki, Yu;
- Aida, Noriko;
- Enomoto, Yumi;
- Ishikura, Kenji;
- Kurosawa, Kenji
Publication type:
Article
Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63802
By:
- Mazzonetto, Patricia C.;
- Villela, Darine;
- Krepischi, Ana C. V.;
- Pierry, Paulo M.;
- Bonaldi, Adriano;
- Almeida, Luiz Gustavo D.;
- Paula, Marcelo G.;
- Bürger, Matheus Carvalho;
- de Oliveira, Ana Gabriela;
- Fonseca, Gustavo G. G.;
- Giugliani, Roberto;
- Riegel‐Giugliani, Mariluce;
- Bertola, Débora;
- Yamamoto, Guilherme Lopes;
- Passos‐Bueno, Maria Rita;
- Campos, Gabriele da Silva;
- Machado, Ana Claudia Dantas;
- Mazzeu, Juliana F.;
- Perrone, Eduardo;
- Zechi‐Ceide, Roseli M.
Publication type:
Article
First copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63801
By:
- Xu, Kexin;
- Li, Guozhuang;
- Niu, Yuchen;
- Wu, Zhihong;
- Zhang, Terry Jianguo;
- Zhang, Shuyang;
- Wu, Nan
Publication type:
Article
Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63800
By:
- Beerepoot, Shanice;
- Verbeke, Jonathan I. M. L.;
- Plantinga, Maud;
- Nierkens, Stefan;
- Pouwels, Petra J. W.;
- Wolf, Nicole I.;
- Simons, Cas;
- van der Knaap, Marjo S.
Publication type:
Article
GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63799
By:
- Kuroda, Yukiko;
- Uehara, Takeshi;
- Enomoto, Yumi;
- Naruto, Takuya;
- Matsumura, Nozomi;
- Kurosawa, Kenji
Publication type:
Article
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63798
By:
- McNamee, Lucy;
- Schoch, Kelly;
- Huang, Alden;
- Lee, Hane;
- Wang, Lee‐kai;
- Smith, Edward C.;
- Lark, Robert K.;
- Buckley, Anne F.;
- Jobanputra, Vaidehi;
- Nelson, Stanley F.;
- Shashi, Vandana;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allenspach, Eric;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley
Publication type:
Article
Molecular autopsy in Chinese sudden cardiac death in the young.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63797
By:
- Kwok, Sit‐Yee;
- Ho, Stephanie;
- Shih, Fong‐Ying;
- Yeung, Pak‐Kwan;
- Cheng, Shirley S. W.;
- Poon, Wai‐Ming;
- Lo, Ivan F. M.;
- Luk, Ho‐Ming
Publication type:
Article
ACOX1 gain‐of‐function variation in a 10‐years‐old patient responsive to immunomodulating therapy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63796
By:
- Filippi, Corinna;
- Brunetti, Sara;
- Plumari, Massimo;
- Valente, Enza Maria;
- Accorsi, Patrizia;
- Fazzi, Elisa Maria
Publication type:
Article
Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63795
By:
- Lildballe, Dorte L.;
- Markholt, Sara;
- Lyngholm, Christina Daugaard;
- Hao, Qin;
- Fagerberg, Christina;
- Nielsen, Dorte Guldbrand;
- Svensmark, Julius Hannibal;
- Diness, Birgitte Rode;
- Gregersen, Pernille A.
Publication type:
Article
The motivations and methods behind sharing a pediatric Prader–Willi syndrome diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63794
By:
- Moy, Victoria F.;
- Denton, Jessica J.;
- Bohonowych, Jessica E.;
- Strong, Theresa V.
Publication type:
Article
Sleep correlates of behavior functioning in Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63793
By:
- Ng, Rowena;
- Grados, Marco;
- O'Connor, Julia;
- Summa, Deirdre;
- Kline, Antonie D.
Publication type:
Article
Impact of definitive surgery for esophageal atresia on long‐term outcomes in patients with trisomy 18.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63792
By:
- Tamaki, Shoko;
- Iwatani, Sota;
- Ikuta, Toshihiko;
- Takeoka, Emiko;
- Matsui, Sachiko;
- Mimura, Hitomi;
- Yokoi, Akiko;
- Hatakeyama, Tadashi;
- Yoshimoto, Seiji;
- Nakao, Hideto
Publication type:
Article
The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63791
By:
- Postma, Julianne K.;
- Harrison, Mary‐Ann;
- Kutcher, Stephen;
- Webster, Richard J.;
- Cloutier, Mireille;
- Bourque, Danielle K.;
- Yu, Andrea C.;
- Carter, Melissa T.
Publication type:
Article
A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63790
By:
- Mallack, Eric J.;
- Wang, Chengbing;
- Kim, Ji‐Sun;
- Ross, M. Elizabeth
Publication type:
Article
Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1‐related ciliopathy spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63789
By:
- Gillesse, E.;
- Wade, A.;
- Parboosingh, J. S.;
- Au, P. Y. B.;
- Bernier, F. P.;
- Lamont, R. E.;
- Innes, A. M.
Publication type:
Article
Medical students' reproductive health perspectives: Pre‐ and post‐Roe v Wade reversal.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63787
By:
- Jenkins, Morgan;
- Hayslip, Margaret;
- Bruce, Channing Freeman;
- Robin, Nathaniel H.
Publication type:
Article
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63781
By:
- Kishnani, Priya S.;
- Seefried, Lothar;
- Dahir, Kathryn M.;
- Martos‐Moreno, Gabriel Ángel;
- Linglart, Agnès;
- Petryk, Anna;
- Mowrey, William R.;
- Fang, Shona;
- Ozono, Keiichi;
- Högler, Wolfgang;
- Rockman‐Greenberg, Cheryl
Publication type:
Article
Long‐term survival of an infant with complete tetraploidy: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63717
By:
- Okamura, Tomoka;
- Yoshimoto, Junko;
- Morimoto, Daisaku;
- Wanatabe, Hirokazu;
- Washio, Yosuke
Publication type:
Article
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63713
By:
- Peduto, Cristina;
- Cappuccio, Gerarda;
- Zeuli, Roberta;
- Zanobio, Mariateresa;
- Torella, Annalaura;
- Alkuraya, Fowzan S.;
- Joss, Shelagh;
- Daolio, Cecilia;
- Spinelli, Alessandro Mauro;
- Zampieri, Stefania;
- Nigro, Vincenzo;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63711
By:
- Hume, Esteban;
- Cossio, María‐Laura;
- Vargas, Paula;
- Cubillos, María Paz;
- Maccioni, Andrea;
- Lay‐Son, Guillermo
Publication type:
Article
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63596
By:
- Bard, Angela M.;
- Clark, Lindsay V.;
- Cosgun, Erdal;
- Aldinger, Kimberly A.;
- Timms, Andrew;
- Quina, Lely A.;
- Ferres, Juan M. Lavista;
- Jardine, David;
- Haas, Elisabeth A.;
- Becker, Tatiana M.;
- Pagan, Chelsea M.;
- Santani, Avni;
- Martinez, Diego;
- Barua, Soumitra;
- McNutt, Zakkary;
- Nesbitt, Addie;
- Mitchell, Edwin A.;
- Ramirez, Jan‐Marino
Publication type:
Article
Table of Contents, Volume 194A, Number 11, November 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63294
Publication type:
Article
Potential Therapy Corrects Calcium Signaling in Timothy Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63293
Publication type:
Article
Genetic Factors Linked to Early Clinical Trial Termination.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63292
Publication type:
Article