Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 4

Results: 32

Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1050, doi. 10.1002/ajmg.a.63125

By:

Russell, Bianca E.;
Kianmahd, Rebecca R.;
Munster, Chelsea;
Yu, Anna;
Ahad, Leena;
Tan, Wen‐Hann

Publication type:

Article

Novel noncanonical splice site variant causes mild CHD7‐related disorder with variable intrafamilial expressivity.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1128, doi. 10.1002/ajmg.a.63122

By:

Boschann, Felix;
Kosmehl, Sabine;
Bloching, Marc;
Grünhagen, Johannes;
Hildebrand, Gabriele;
Horn, Denise;
Lyutenski, Stefan

Publication type:

Article

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1119, doi. 10.1002/ajmg.a.63120

By:

Akalın, Akçahan;
Şimşek‐Kiper, Pelin Özlem;
Taşkıran, Ekim Z.;
Karaosmanoğlu, Beren;
Utine, Gülen Eda;
Boduroğlu, Koray

Publication type:

Article

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1044, doi. 10.1002/ajmg.a.63119

By:

Borja, Nicholas;
Zafeer, Mohammad Faraz;
Rodriguez, Jeimy Alfonso;
Morel Swols, Dayna;
Thorson, Willa;
Bademci, Guney;
Tekin, Mustafa

Publication type:

Article

Neonatal diagnosis of ACTA2‐related disease: A case report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1111, doi. 10.1002/ajmg.a.63118

By:

Lupo, Viviana;
Di Gregorio, Maria Grazia;
Mastrogiorgio, Gerarda;
Magliozzi, Monia;
Scapillati, Maria Eleonora;
Maglione, Vittorio;
Romanelli, Ester;
Alegiani, Caterina;
Haass, Cristina;
Novelli, Antonio

Publication type:

Article

The spectrum of neurological manifestations and genotype–phenotype correlation in Indian children with Gaucher disease.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1038, doi. 10.1002/ajmg.a.63115

By:

Venkatachari, Mahesh;
Chakraborty, Soumalya;
Correa, Alec Reginald Errol;
Mishra, Puneeta;
Kocchar, Kanwal Preet;
Kabra, Madhulika;
Chakrabarty, Biswaroop;
Kalaivani, Mani;
Sapra, Savita;
Mishra, Pallavi;
Gulati, Sheffali;
Gupta, Neerja

Publication type:

Article

Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith‐Wiedemann syndrome: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1107, doi. 10.1002/ajmg.a.63114

By:

McElroy, Timothy D.;
Duffy, Kelly A.;
Hathaway, Evan R.;
Byrne, Mallory E.;
Kalish, Jennifer M.

Publication type:

Article

Seizures in trisomy 18: Prevalence, description, and treatment.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1026, doi. 10.1002/ajmg.a.63113

By:

Jaspersen, Sue L.;
Bruns, Deborah A.;
Candee, Meghan S.;
Battaglia, Agatino;
Carey, John C.;
Fishler, Kristen P.

Publication type:

Article

Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1101, doi. 10.1002/ajmg.a.63112

By:

Mastromoro, Gioia;
Guadagnolo, Daniele;
Marchionni, Enrica;
Torres, Barbara;
Goldoni, Marina;
Onori, Annamaria;
Bernardini, Laura;
De Luca, Alessandro;
Torrente, Isabella;
Pizzuti, Antonio

Publication type:

Article

Next generation phenotyping with quantitative narration for DEGCAGS syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1020, doi. 10.1002/ajmg.a.63111

By:

Freeman, Rebecca;
Noronha, Adriana;
Woods, Jeremy

Publication type:

Article

Delineating the phenotype of RNU4ATAC‐related spliceosomopathy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1094, doi. 10.1002/ajmg.a.63110

By:

Tabib, Amanda;
Richmond, Christopher M.;
McGaughran, Julie

Publication type:

Article

A pilot study of home‐based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1013, doi. 10.1002/ajmg.a.63109

By:

Falah, Nadia;
Terry, Alissa;
Umer, Amna;
Kastner, Marlee;
Oliverio, Kathryn L.;
Matthews, Nicole;
Kelly, Kimberly M.;
Kellar‐Guenther, Yvonne

Publication type:

Article

Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1007, doi. 10.1002/ajmg.a.63108

By:

Albakri, Amani;
Pisuchpen, Phattrawan;
Capasso, Jenina E.;
Schneider, Adele;
Kopinsky, Sarina;
Glaser, Tom;
Chiang, John P.‐W.;
Yomai, Anamaria Akapito;
McNear, Donna;
Levin, Alex V.

Publication type:

Article

Amniotic band syndrome and limb body wall complex in Europe 1980–2019.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 995, doi. 10.1002/ajmg.a.63107

By:

Bergman, Jorieke E. H.;
Barišić, Ingeborg;
Addor, Marie‐Claude;
Braz, Paula;
Cavero‐Carbonell, Clara;
Draper, Elizabeth S.;
Echevarría‐González‐de‐Garibay, Luis J.;
Gatt, Miriam;
Haeusler, Martin;
Khoshnood, Babak;
Klungsøyr, Kari;
Kurinczuk, Jennifer J.;
Latos‐Bielenska, Anna;
Luyt, Karen;
Martin, Danielle;
Mullaney, Carmel;
Nelen, Vera;
Neville, Amanda J.;
O'Mahony, Mary T.;
Perthus, Isabelle

Publication type:

Article

Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge–Weber syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 983, doi. 10.1002/ajmg.a.63106

By:

Yeom, SangEun;
Cohen, Bernard;
Weiss, Clifford R.;
Montano, Carolina;
Wohler, Elizabeth;
Sobreira, Nara;
Hammill, Adrienne M.;
Comi, Anne

Publication type:

Article

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 977, doi. 10.1002/ajmg.a.63105

By:

Matalon, Dena R.;
Bhoj, Elizabeth J.;
Li, Dong;
McDougall, Carey;
Schindewolf, Erica;
Khalek, Nahla;
Wilkens, Alisha;
McManus, Morgan;
Deardorff, Matthew A.;
Zackai, Elaine H.

Publication type:

Article

A novel deleterious ETFA promoter variant causative of multiple acyl‐CoA dehydrogenase deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1089, doi. 10.1002/ajmg.a.63104

By:

Prasun, Pankaj;
Evans, Anthony;
Cork, Emalyn;
Houten, Sander M.;
Webb, Bryn D.

Publication type:

Article

Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 962, doi. 10.1002/ajmg.a.63103

By:

Kremen, Jessica;
Davis, Shanlee M.;
Nahata, Leena;
Kapa, Hillary M.;
Dattilo, Taylor M.;
Liu, Enju;
Hutaff‐Lee, Christa;
Tishelman, Amy C.;
Crerand, Canice E.

Publication type:

Article

The past, present, and future of child growth monitoring: A review and primer for clinical genetics.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 948, doi. 10.1002/ajmg.a.63102

By:

Shur, Natasha;
Tigranyan, Annie;
Daymont, Carrie;
Regier, Debra S.;
Raturi, Sumant;
Roshan Lal, Tamanna;
Cleary, Kevin;
Summar, Marshall

Publication type:

Article

Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1083, doi. 10.1002/ajmg.a.63101

By:

Créton, Marijn;
Wagener, Frank;
Massink, Maarten;
Fennis, Willem;
Bloemen, Marjon;
Schols, Jan;
Aarts, Miranda;
van der Molen, Aebele Mink;
van Haaften, Gijs;
van den Boogaard, Marie José

Publication type:

Article

Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21‐year‐old female with an intronic mutation in the elastin gene.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1059, doi. 10.1002/ajmg.a.63095

By:

Krarup, Nikolaj Thure;
Hvidbjerg, Marie;
Zaremba, Tomás;
Sommerlund, Mette;
Christensen, Martin Kirk

Publication type:

Article

ZDHHC15 as a candidate gene for autism spectrum disorder.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 941, doi. 10.1002/ajmg.a.63099

By:

Casellas‐Vidal, Dolors;
Mademont‐Soler, Irene;
Sánchez, Joana;
Plaja, Alberto;
Castells, Neus;
Camós, Maria;
Nieto‐Moragas, Javier;
del Mar García, Maria;
Rodriguez‐Solera, Celia;
Rivera, Helena;
Brunet, Joan;
Álvarez, Sara;
Perapoch, Josep;
Queralt, Xavier;
Obón, María

Publication type:

Article

A typical variant in TCF4 exon 18 is not associated with Pitt–Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1070, doi. 10.1002/ajmg.a.63098

By:

Aldeeri, Abdulrahman A.;
Abu‐El‐Haija, Aya

Publication type:

Article

In Loving Memory of Mary Kaye Richter (1945–2022).

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 920, doi. 10.1002/ajmg.a.62801
Publication type:: Article

A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok‐Campeau syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1065, doi. 10.1002/ajmg.a.63096

By:

LeBreton, Laure;
Allain, Eric P.;
Parscan, Radu Christian;
Crapoulet, Nicolas;
Almaghraby, Abdullah;
Ben Amor, Mouna

Publication type:

Article

TRAPPC9‐related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1077, doi. 10.1002/ajmg.a.63100

By:

Penon‐Portmann, Monica;
Hodoglugil, Ugur;
Arun P, Wiita;
Yip, Tiffany;
Slavotinek, Anne;
Tenney, Jessica L.

Publication type:

Article

BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 923, doi. 10.1002/ajmg.a.63094

By:

Chouery, Eliane;
Tahan, Elio;
Karam, Rim;
Pharoun, Jana;
Mehawej, Cybel;
Megarbane, Andre

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 922, doi. 10.1002/ajmg.a.62802
Publication type:: Article

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 930, doi. 10.1002/ajmg.a.63097

By:

Wigby, Kristen;
Hammer, Monia;
Tokita, Mari;
Patel, Priyanka;
Jones, Marilyn C.;
Larson, Austin;
Bartolomei, Frances Velez;
Dykzeul, Natalie;
Slavotinek, Anne;
Yip, Tiffany;
Bandres‐Ciga, Sara;
Simpson, Brittany N.;
Suhrie, Kristen;
Shankar, Suma;
Veith, Regan;
Bragg, Jennifer;
Powell, Cynthia;
Kingsmore, Stephen F.;
Dimmock, David;
Maron, Jill

Publication type:

Article

The Human Genome Sequence is now Complete.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 919, doi. 10.1002/ajmg.a.62800
Publication type:: Article

Publication schedule for 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 918, doi. 10.1002/ajmg.a.62799
Publication type:: Article

Table of Contents, Volume 191A, Number 4, April 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 913, doi. 10.1002/ajmg.a.62798
Publication type:: Article