Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 12

Results: 29

TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3469, doi. 10.1002/ajmg.a.62972
By:
- Li, Guozhuang;
- Strong, Alanna;
- Wang, Haojun;
- Kim, Ji‐Sun;
- Watson, Deborah;
- Zhao, Sen;
- Vaccaro, Courtney;
- Hartung, Erum;
- Hakonarson, Hakon;
- Zhang, Terry Jianguo;
- Giampietro, Philip F.;
- Wu, Nan
Publication type:
Article
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3563, doi. 10.1002/ajmg.a.62971
By:
- Veltra, Danai;
- Kosma, Konstantina;
- Papavasiliou, Antigoni;
- Tilemis, Faidon‐Nikolaos;
- Traeger‐Synodinos, Joanne;
- Sofocleous, Christalena
Publication type:
Article
Possible marfanoid habitus of Cesare Alessandro Scaglia di Verrua evidenced in portraits of Sir Anthony van Dyck?
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3569, doi. 10.1002/ajmg.a.62975
By:
- Homolak, Jan;
- Kodvanj, Ivan
Publication type:
Article
Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3482, doi. 10.1002/ajmg.a.62974
By:
- Nazeha, Nuraini;
- Koh, Ai Ling;
- Kam, Sylvia;
- Lim, Jiin Ying;
- Goh, Denise Li Meng;
- Jamuar, Saumya Shekhar;
- Graves, Nicholas
Publication type:
Article
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy‐like lymphedema: First prenatal case report.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3550, doi. 10.1002/ajmg.a.62973
By:
- Huynh, Minh‐Tuan;
- Degre, Sophie;
- Joly‐Helas, Géraldine;
- Bréon, Cathy;
- Potel, Stéphanie;
- Chambon, Pascal;
- Bouligand, Jérôme;
- Layet, Valérie
Publication type:
Article
Mystery solved after 23 years: M syndrome is PIGT‐associated multiple congenital anomalies‐hypotonia‐seizures syndrome 3.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3567, doi. 10.1002/ajmg.a.62977
By:
- Nóbrega, Paulo Ribeiro;
- Castro, Matheus Augusto Araújo;
- de Paiva, Anderson Rodrigues Brandão;
- Kok, Fernando
Publication type:
Article
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3492, doi. 10.1002/ajmg.a.62976
By:
- Sy, Mary R.;
- Chauhan, Jaynee;
- Prescott, Katrina;
- Imam, Aliza;
- Kraus, Alison;
- Beleza, Ana;
- Salkeld, Lee;
- Hosdurga, Saraswati;
- Parker, Michael;
- Vasudevan, Pradeep;
- Islam, Lily;
- Goel, Himanshu;
- Bain, Nicole;
- Park, Soo‐Mi;
- Mohammed, Shehla;
- Dieterich, Klaus;
- Coutton, Charles;
- Satre, Véronique;
- Vieville, Gaëlle;
- Donaldson, Alan
Publication type:
Article
The perinatal phenotype of Troyer syndrome: Case report and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3558, doi. 10.1002/ajmg.a.62970
By:
- Bryson, Lisa;
- Anderson, Laurie;
- Pagan, Judith;
- Hamzollari, Rossella;
- Hamilton, Mark J.
Publication type:
Article
GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3546, doi. 10.1002/ajmg.a.62969
By:
- Williams, Aaron;
- Cooney, Erin;
- Segal, Gabrielle;
- Narayanan, Swetha;
- Morand, Megan;
- Agadi, Satish
Publication type:
Article
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3463, doi. 10.1002/ajmg.a.62968
By:
- Elsana, Baker;
- Imtirat, Ahed;
- Yagev, Ronit;
- Gradstein, Libe;
- Majdalani, Pierre;
- Iny, Oren;
- Parvari, Ruti;
- Tsumi, Erez
Publication type:
Article
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3540, doi. 10.1002/ajmg.a.62966
By:
- Mazel, Benoit;
- Mallet, Delphine;
- Roucher‐Boulez, Florence;
- Signor, Candace Ben;
- Bournez, Marie;
- Darmency, Véronique;
- Bourgeois, Valentin;
- Poe, Charlotte;
- El Khabbaz, Fares;
- Vitobello, Antonio;
- Philippe, Christophe;
- Duffourd, Yannis;
- Thauvin‐Robinet, Christel;
- Faivre, Laurence;
- Nambot, Sophie
Publication type:
Article
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3535, doi. 10.1002/ajmg.a.62964
By:
- Reeves, Ashley;
- Ojha, Kanwal;
- Meddaugh, Hannah;
- Zambrano, Regina M.
Publication type:
Article
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3448, doi. 10.1002/ajmg.a.62962
By:
- DiGiovanna, John J.;
- Randall, Grant;
- Edelman, Alexandra;
- Allawh, Rina;
- Xiong, Michael;
- Tamura, Deborah;
- Khan, Sikandar G.;
- Rizza, Elizabeth R. H.;
- Reynolds, James C.;
- Paul, Scott M.;
- Hill, Suvimol C.;
- Kraemer, Kenneth H.
Publication type:
Article
Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3531, doi. 10.1002/ajmg.a.62953
By:
- Gable, Dustin L.;
- Mo, Alisa;
- Estrella, Elicia;
- Saffari, Afshin;
- Ghosh, Partha S.;
- Ebrahimi‐Fakhari, Darius
Publication type:
Article
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3510, doi. 10.1002/ajmg.a.62929
By:
- Koene, Saskia;
- Klerx‐Melis, Floortje;
- Roest, Arno Anne Willem;
- Kleijwegt, Maarten Cornelis;
- Bootsma, Marianne;
- Haak, Monique C.;
- van Haeringen, Meike Heleen;
- Ruivenkamp, Claudia Antoinette Laetitia;
- Nibbeling, Esther Anne Rieky;
- van Haeringen, Arie
Publication type:
Article
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3432, doi. 10.1002/ajmg.a.62950
By:
- Fennell, Andrew Paul;
- Baxter, Anne Elizabeth;
- Berkovic, Samuel Frank;
- Ellaway, Carolyn Jane;
- Forwood, Caitlin;
- Hildebrand, Michael Stephen;
- Kumble, Smitha;
- McKeown, Colina;
- Mowat, David;
- Poke, Gemma;
- Rajagopalan, Sulekha;
- Regan, Brigid M.;
- Scheffer, Ingrid Eileen;
- Stark, Zornitza;
- Stutterd, Chloe Alice;
- Tan, Tiong Yang;
- Wilkins, Ella Jane;
- Yeung, Alison;
- Hunter, Matthew Frank
Publication type:
Article
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3516, doi. 10.1002/ajmg.a.62940
By:
- Keehan, Laura;
- Haviland, Isabel;
- Gofin, Yoel;
- Swanson, Lindsay C.;
- El Achkar, Christelle Moufawad;
- Schreiber, John;
- VanNoy, Grace E.;
- O'Heir, Emily;
- O'Donnell‐Luria, Anne;
- Lewis, Richard Alan;
- Magoulas, Pilar;
- Tran, Alyssa;
- Azamian, Mahshid S.;
- Chao, Hsiao‐Tuan;
- Pham, Lisa;
- Samaco, Rodney C.;
- Elsea, Sarah;
- Thorpe, Erin;
- Kesari, Akanchha;
- Perry, Denise
Publication type:
Article
The role of the University of Padua medical school in the study of conjoined twins between 18th and early 19th century.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3423, doi. 10.1002/ajmg.a.62938
By:
- Magno, Giovanni;
- Boer, Lucas L.;
- Oostra, Roelof‐Jan;
- Zanatta, Alberto
Publication type:
Article
Underrepresentation of the term cerebral palsy in clinical genetics databases.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3555, doi. 10.1002/ajmg.a.62930
By:
- Srivastava, Siddharth;
- Lewis, Sara A.;
- Kruer, Michael C.;
- Poduri, Annapurna
Publication type:
Article
Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3525, doi. 10.1002/ajmg.a.62951
By:
- Atzmony, Lihi;
- Ugwu, Nelson;
- Bercovitch, Lionel G.;
- Robinson‐Bostom, Leslie;
- Ko, Christine J.;
- Myung, Peggy;
- Choate, Keith A.
Publication type:
Article
Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio‐facio‐cutaneous syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3505, doi. 10.1002/ajmg.a.62926
By:
- Shiohama, Tadashi;
- Fujii, Katsunori;
- Kosaki, Rika;
- Watanabe, Yoshimi;
- Uchida, Tomoko;
- Hagiwara, Sho;
- Kinoshita, Kaori;
- Sugita, Katsuo;
- Aoki, Yoko;
- Shimojo, Naoki
Publication type:
Article
The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3416, doi. 10.1002/ajmg.a.62920
By:
- Campbell, Ian M.;
- Crowley, T. Blaine;
- Keena, Beth;
- Donoghue, Sarah;
- McManus, Morgan L.;
- Zackai, Elaine H.
Publication type:
Article
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3401, doi. 10.1002/ajmg.a.62904
By:
- Bruce, Laurel;
- Peter, Beate
Publication type:
Article
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3389, doi. 10.1002/ajmg.a.62899
By:
- St John, Miya;
- Amor, David J.;
- Morgan, Angela T.
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3387, doi. 10.1002/ajmg.a.62335
Publication type:
Article
Extra X or Y Chromosome may put Men at Higher Risk for Several Conditions.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3385, doi. 10.1002/ajmg.a.62334
Publication type:
Article
GnRH Therapy may Improve Cognitive Function in Down Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3384, doi. 10.1002/ajmg.a.62333
Publication type:
Article
Publication schedule for 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3383, doi. 10.1002/ajmg.a.62332
Publication type:
Article
Table of Contents, Volume 188A, Number 12 December 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3379, doi. 10.1002/ajmg.a.62331
Publication type:
Article