Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 2

Results: 36

A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 383, doi. 10.1002/ajmg.a.63448
By:
- Alhendi, Ahmed S. N.;
- Gazdagh, Gabriella;
- Lim, Derek;
- McMullan, Dominic;
- Wright, Michael;
- Temple, I. Karen;
- Davies, Justin H.;
- Mackay, Deborah J. G.
Publication type:
Article
Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 389, doi. 10.1002/ajmg.a.63447
By:
- Jiang, Nan;
- Sewell, Taylor B.;
- Kowalski, Theresa L.;
- Rekab, Aisha;
- Hills, Susannah;
- Fazlollahi, Ladan;
- Lauren, Christine T.;
- Morel, Kimberly;
- Mehta, Lakshmi;
- Liao, Jun
Publication type:
Article
A mesomelic skeletal dysplasia, Kantaputra‐like, not related to HOXD cluster region, and with phenotypic gender differences.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 328, doi. 10.1002/ajmg.a.63444
By:
- Lacarrubba‐Flores, Maria Dora Jazmin;
- da Costa Silveira, Karina;
- Silveira, Cynthia;
- Carvalho, Benilton S.;
- Cavalcanti, Denise Pontes
Publication type:
Article
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 320, doi. 10.1002/ajmg.a.63443
By:
- Gomes, Adriana;
- Zapata, Laura Forero;
- Galarreta, Carolina I.;
- Henderson, Riley;
- Hoyt, Erin;
- Swee, Steven;
- Bird, Lynne M.
Publication type:
Article
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti‐seizure medication.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 301, doi. 10.1002/ajmg.a.63428
By:
- Kenney‐Jung, Daniel L.;
- Collazo‐Lopez, Josue E.;
- Rogers, Dante J.;
- Shanley, Ryan;
- Zatkalik, Abigail L.;
- Whitmarsh, Ashley E.;
- Roberts, Amy E.;
- Zenker, Martin;
- Pierpont, Elizabeth I.
Publication type:
Article
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 288, doi. 10.1002/ajmg.a.63442
By:
- Cardiff, Katharine;
- Ecker, Lindsey Alico;
- Austin, Jehannine
Publication type:
Article
A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 368, doi. 10.1002/ajmg.a.63440
By:
- Piscopo, Anthony;
- Warner, Taylor;
- Nagy, Jaime;
- Nagrale, Vidya;
- Stence, Aaron;
- Guseva, Natalya;
- Bernat, John A.;
- Calhoun, Amy
Publication type:
Article
Vissers‐Bodmer syndrome caused by a novel de novo CNOT1 frameshift variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 363, doi. 10.1002/ajmg.a.63439
By:
- Wu, Tingting;
- Chen, Xi;
- Zhang, Xingxing
Publication type:
Article
EED related overgrowth: First report of multiple members in a single family.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 374, doi. 10.1002/ajmg.a.63438
By:
- Goel, Himanshu;
- O'Donnell, Sheridan;
- Edwards, Matthew
Publication type:
Article
Causes of death in individuals with trisomy 18 after the first year of life.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 279, doi. 10.1002/ajmg.a.63436
By:
- Mehl, Justin M.;
- Gelfond, Jonathan;
- Carey, John C.;
- Cody, Jannine D.
Publication type:
Article
Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 311, doi. 10.1002/ajmg.a.63441
By:
- Kanakatti Shankar, Roopa;
- Carl, Alexandra;
- Law, Jennifer R.;
- Bamba, Vaneeta;
- Brickman, Wendy J.;
- Prakash, Siddharth K.;
- Dowlut McElroy, Tazim;
- Howell, Susan;
- Gutmark Little, Iris;
- Klein, Karen O.;
- Pinnaro, Catherina T.;
- Ranallo, Kelly;
- Good, Marybel;
- Davis, Shanlee M.
Publication type:
Article
Pathogenic variant in the X‐linked ARR3 gene associated with variable early‐onset myopia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 397, doi. 10.1002/ajmg.a.63435
By:
- Ediae, Grace Uwaila;
- Chisholm, Caitlin;
- Lemire, Gabrielle;
- Campbell, Fred;
- Boycott, Kym M.
Publication type:
Article
ACBD5‐related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 346, doi. 10.1002/ajmg.a.63433
By:
- Rudaks, Laura Ivete;
- Triplett, James;
- Morris, Katrina;
- Reddel, Stephen;
- Worgan, Lisa
Publication type:
Article
Annular pancreas in two sisters: The story goes on.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 400, doi. 10.1002/ajmg.a.63432
By:
- Elischer, Philipp;
- Caliebe, Almuth;
- Nagel, Inga;
- Bergholz, Robert;
- Schrappe, Martin;
- Claviez, Alexander;
- Longardt, Ann Carolin
Publication type:
Article
Growth reference charts for children with hypochondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 243, doi. 10.1002/ajmg.a.63431
By:
- Cheung, Moira S.;
- Cole, Tim J.;
- Arundel, Paul;
- Bridges, Nicola;
- Burren, Christine P.;
- Cole, Trevor;
- Davies, Justin Huw;
- Hagenäs, Lars;
- Högler, Wolfgang;
- Hulse, Anthony;
- Mason, Avril;
- McDonnell, Ciara;
- Merker, Andrea;
- Mohnike, Klaus;
- Sabir, Ataf;
- Skae, Mars;
- Rothenbuhler, Anya;
- Warner, Justin;
- Irving, Melita
Publication type:
Article
Live‐born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 253, doi. 10.1002/ajmg.a.63429
By:
- Kushwaha, Shivani;
- Stinnett, Victoria;
- Zou, Ying S.;
- Murry, Jaclyn B.
Publication type:
Article
Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 211, doi. 10.1002/ajmg.a.63434
By:
- Jiménez de la Peña, Mar;
- Rincón‐Pérez, Irene;
- López‐Martín, Sara;
- Albert, Jacobo;
- Martín Fernández‐Mayoralas, Daniel;
- Fernández‐Perrone, Ana Laura;
- Jiménez de Domingo, Ana;
- Tirado, Pilar;
- Calleja‐Pérez, Beatriz;
- Porta, Javier;
- Álvarez, Sara;
- Fernández‐Jaén, Alberto
Publication type:
Article
Diagnostic yield of chromosomal microarray in the largest Latino clinical cohort.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 218, doi. 10.1002/ajmg.a.63427
By:
- Carrillo, Yina D.;
- Rueda‐Gaitán, Paula;
- Gualdrón, Orlando;
- Estrada‐Serrato, Carlos;
- Castro‐Cuesta, Taryn A.;
- Londoño, Olga;
- Rodríguez‐Salazar, Luna;
- Isaza‐Ruget, Mario;
- Arcos‐Burgos, Mauricio;
- López Rivera, Juan Javier
Publication type:
Article
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 131, doi. 10.1002/ajmg.a.63417
By:
- Siebold, Dorothea;
- Denton, Jessica;
- Hurst, Anna C. E.;
- Moss, Irene;
- Korf, Bruce
Publication type:
Article
Adapting a quality of life scale for children and young people with Down syndrome in Chile.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 233, doi. 10.1002/ajmg.a.63414
By:
- Jofré Urrutia, Macarena;
- Bedregal, Paula;
- Lizama, Macarena
Publication type:
Article
Long term outcomes in children with trichohepatoenteric syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 141, doi. 10.1002/ajmg.a.63409
By:
- Lee, Kwang Yang;
- Bremner, Ronald;
- Hartley, Jane;
- Protheroe, Sue;
- Haller, Wolfram;
- Johnson, Tracey;
- Whyte, Lisa
Publication type:
Article
The Legacy of David W. Smith.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 128, doi. 10.1002/ajmg.a.63257
Publication type:
Article
David W. Smith Workshop: 44 Years and Going Strong.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 126, doi. 10.1002/ajmg.a.63256
Publication type:
Article
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 174, doi. 10.1002/ajmg.a.63426
By:
- Ritelli, Marco;
- Chiarelli, Nicola;
- Cinquina, Valeria;
- Vezzoli, Marika;
- Venturini, Marina;
- Colombi, Marina
Publication type:
Article
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 226, doi. 10.1002/ajmg.a.63425
By:
- Issa, Mahmoud Y.;
- Hafez, Mona A.;
- Mounir, Samir M.;
- Abdel Ghafar, Sherif F.;
- Zaki, Maha S.;
- Abdel‐Hamid, Mohamed S.
Publication type:
Article
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 268, doi. 10.1002/ajmg.a.63424
By:
- Nishi, Eriko;
- Miyake, Noriko;
- Kawamura, Rie;
- Hosoki, Kana;
- Hasegawa, Yuiko;
- Matsumoto, Naomichi;
- Okamoto, Nobuhiko
Publication type:
Article
Growth in puberty in girls with hypochondroplasia, p.Asn540Lys‐related mutations.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 394, doi. 10.1002/ajmg.a.63423
By:
- del Pino, Mariana;
- Fano, Virginia
Publication type:
Article
Bone health in SATB2‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 203, doi. 10.1002/ajmg.a.63421
By:
- Zarate, Yuri A.;
- Bosanko, Katherine;
- Andres, Aline;
- Fish, Jennifer L.
Publication type:
Article
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 358, doi. 10.1002/ajmg.a.63420
By:
- Yap, Jia Ying Celeste;
- Lim, Jiin Ying;
- Bhatia, Anju;
- Tan, Vic Khi June;
- Koo, Stephanie;
- Nishimura, Gen;
- Moosa, Shahida;
- Koh, Ai Ling;
- Tan, Ene Choo;
- Fong, Nikki;
- Jamuar, Saumya Shekhar
Publication type:
Article
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 337, doi. 10.1002/ajmg.a.63418
By:
- Abdennadher, Myriam;
- Inati, Sara K.;
- Rahhal, Samar;
- Khan, Omar;
- Bartolini, Luca;
- Thurm, Audrey;
- Theodore, William;
- Miller, Judith S.;
- Porter, Forbes D.;
- Bianconi, Simona
Publication type:
Article
Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 150, doi. 10.1002/ajmg.a.63398
By:
- Hanson, Claire;
- Blumenthal, Jonathan;
- Clasen, Liv;
- Guma, Elisa;
- Raznahan, Armin
Publication type:
Article
Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 351, doi. 10.1002/ajmg.a.63377
By:
- Aekka, Apoorva;
- Weisman, Allison Goetsch;
- Papadakis, Jaclyn;
- Yerkes, Elizabeth;
- Baker, Joshua;
- Keswani, Mahima;
- Weinstein, Joanna;
- Finlayson, Courtney
Publication type:
Article
Table of Contents, Volume 194A, Number 2, February 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 121, doi. 10.1002/ajmg.a.63259
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 129, doi. 10.1002/ajmg.a.63258
Publication type:
Article
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 195, doi. 10.1002/ajmg.a.63397
By:
- Serbinski, Carolyn R.;
- Vanderwal, April;
- Chadwell, Sarah E.;
- Sanchez, Ana Isabel;
- Hopkin, Robert J.;
- Hufnagel, Robert B.;
- Weaver, K. Nicole;
- Prada, Carlos E.
Publication type:
Article
Parental age effects and Rett syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 160, doi. 10.1002/ajmg.a.63396
By:
- Fang, Xiaolan;
- Baggett, Lauren M.;
- Caylor, Raymond C.;
- Percy, Alan K.;
- Neul, Jeffrey L.;
- Lane, Jane B.;
- Glaze, Daniel G.;
- Benke, Tim A.;
- Marsh, Eric D.;
- Motil, Kathleen J.;
- Barrish, Judy O.;
- Annese, Fran E.;
- Skinner, Steven A.
Publication type:
Article