Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 7

Results: 35

Cover Image, Volume 194A, Number 7, July 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63786
Publication type:
Article
14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63604
By:
- Blake, Claire;
- Widmeyer, Kimmie;
- DAquila, Kristen;
- Mochizuki, Aaron;
- Smolarek, Teresa A.;
- Pillay‐Smiley, Natasha;
- Kim, Sun Young
Publication type:
Article
A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT).
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63603
By:
- Kavanagh, K.;
- Coleman, J.;
- O'Connell, S. M.;
- Fhoghlú, C. Ní;
- Moore, D. P.;
- Brenner, C.;
- Lynch, S. A.
Publication type:
Article
Early‐onset West syndrome with developmental delay associated with a novel KLHL20 variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63600
By:
- Kuroda, Yukiko;
- Ikeda, Azusa;
- Naruto, Takuya;
- Kurosawa, Kenji
Publication type:
Article
RNA analysis and computer‐aided facial phenotyping help to classify a novel TRIO splice site variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63599
By:
- Schwartzmann, Sarina;
- Zhao, Max;
- Sczakiel, Henrike Lisa;
- Hildebrand, Gabriele;
- Ehmke, Nadja;
- Horn, Denise;
- Mensah, Martin A.;
- Boschann, Felix
Publication type:
Article
Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63598
By:
- Kong, Xiangtian;
- Xu, Jian;
- Yin, Honggang;
- Jiang, Hongru;
- Cao, Xian;
- Cui, Aimin;
- Wang, Xueqian
Publication type:
Article
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63597
By:
- Ezell, Kimberly M.;
- Tinker, Rory J.;
- Furuta, Yutaka;
- Gulsevin, Alican;
- Bastarache, Lisa;
- Hamid, Rizwan;
- Cogan, Joy D.;
- Rives, Lynette;
- Neumann, Serena;
- Corner, Brian;
- Kozuria, Mary;
- Phillips, John A.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.
Publication type:
Article
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63590
By:
- Marshall, Aren E.;
- Brady, Lauren;
- Yeh, Ed;
- Mears, Alan J.;
- Lacaria, Melanie;
- Chakraborty, Pranesh;
- Tarnopolsky, Mark A.;
- Kernohan, Kristin D.
Publication type:
Article
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63589
By:
- Gerard, Amanda;
- Mizerik, Elizabeth;
- Mohila, Carrie A.;
- AlAwami, Sarah;
- Hunter, Jill V.;
- Kearney, Debra L.;
- Lalani, Seema R.;
- Scaglia, Fernando
Publication type:
Article
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non‐Finnish European, Finnish, and Ashkenazi Jewish populations.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63588
By:
- Kandolin, Miska;
- Pöyhönen, Minna;
- Jakkula, Eveliina
Publication type:
Article
Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63585
By:
- Renard, E.;
- Bonnet, C.;
- Di Patrizio, M.;
- Schmitt, E.;
- Madkaud, A. C.;
- Chabot, C.;
- Kuchenbuch, M.;
- Lambert, L.
Publication type:
Article
Taking the risk. A systematic review of ethical reasons and moral arguments in the clinical use of polygenic risk scores.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63584
By:
- Andreoli, Lara;
- Peeters, Hilde;
- Van Steen, Kristel;
- Dierickx, Kris
Publication type:
Article
Medical findings and congenital anomalies in Vermeer's paintings.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63583
By:
- Bianchi, Diana W.;
- Scherjon, Sicco A.
Publication type:
Article
LUMBAR syndrome–OEIS complex overlap: A case series and review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63582
By:
- Barrios, L.;
- Chamlin, S.;
- Keppler‐Noreuil, Kim M.;
- Rialon, K. L.;
- Austin, Paul;
- Alhajjat, A.;
- Bowen, D.;
- Metry, Denise W.;
- Siegel, D. H.
Publication type:
Article
Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63574
By:
- Crane, Haley M.;
- Asher, Stephanie;
- Conway, Laura;
- Drivas, Theodore G.;
- Kallish, Staci
Publication type:
Article
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63580
By:
- Bensaid, Souad;
- Bendahmane, Malika;
- Loddo, Sara;
- Poke, Gemma;
- Januel, Louis;
- Nicolle, Romain;
- Malan, Valérie;
- Chatron, Nicolas;
- Ottombrino, Silvia;
- Dentici, Maria Lisa;
- Novelli, Antonio;
- Digilio, Maria Cristina;
- Sanlaville, Damien
Publication type:
Article
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63578
By:
- Garber, Alison;
- Weingarten, Lisa S.;
- Abreu, Nicolas J.;
- Elloumi, Houda Zghal;
- Haack, Tobias;
- Hildebrant, Clara;
- Martínez‐Gil, Núria;
- Mathews, Jennifer;
- Müller, Amelie Johanna;
- Valenzuela Palafoll, Irene;
- Steigerwald, Connolly;
- Chung, Wendy K.
Publication type:
Article
SMC1A epilepsy syndrome: clinical data from a large international cohort.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63577
By:
- Gibellato, Elisabetta;
- Cianci, Paola;
- Mariani, Milena;
- Parma, Barbara;
- Huisman, Sylvia;
- Śmigiel, Robert;
- Bisgaard, Anne‐Marie;
- Massa, Valentina;
- Gervasini, Cristina;
- Moretti, Alex;
- Cattoni, Alessandro;
- Biondi, Andrea;
- Selicorni, Angelo
Publication type:
Article
RET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63576
By:
- Valente, Flávia O. F.;
- Camacho, Cléber P.;
- Lindsey, Susan C.;
- Yang, Ji H.;
- Kunii, Ilda S.;
- Santos, Roberto B.;
- Kizys, Marina M. L.;
- Cerutti, Janete M.;
- Dias‐da‐Silva, Magnus R.;
- Maciel, Rui M. B.
Publication type:
Article
Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63575
By:
- Nishino, Megumi;
- Tanaka, Mai;
- Imagawa, Kazuo;
- Yaita, Katsuyuki;
- Enokizono, Takashi;
- Ohto, Tatsuyuki;
- Suzuki, Hisato;
- Yamada, Mamiko;
- Takenouchi, Toshiki;
- Kosaki, Kenjiro;
- Takada, Hidetoshi
Publication type:
Article
TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63579
By:
- Khalaf‐Nazzal, Reham;
- Dweikat, Imad;
- Ubeyratna, Nishanka;
- Fasham, James;
- Alawneh, Maysa;
- Leslie, Joseph;
- Maree, Mosab;
- Gunning, Adam;
- Zayed, Deyala Z.;
- Voutsina, Nikol;
- McGavin, Lucy;
- Sawafta, Reem;
- Owens, Martina;
- Baker, Wisam;
- Turnpenny, Peter;
- Al‐Hijawi, Fida';
- Baple, Emma L.;
- Crosby, Andrew H.;
- Rawlins, Lettie E.
Publication type:
Article
Hematologic malignancies in Li–Fraumeni syndrome: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63573
By:
- Bundrant, Bethany;
- Gerstein, Yoheved;
- Arun, Banu;
- DiNardo, Courtney D.
Publication type:
Article
Metastatic adrenal gland neuroblastoma in an infant with trisomy 18: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63572
By:
- Tamur, Shadi
Publication type:
Article
Growth charts for weight and height of Indian children with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63571
By:
- Bhalla, Anil Kumar;
- Kaur, Harvinder;
- Kaur, Rupinder;
- Panigrahi, Inusha
Publication type:
Article
Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63570
By:
- Keeley, Jessica;
- Benson‐Goldberg, Sofia;
- Saldaris, Jacinta;
- Lariviere, Judy;
- Leonard, Helen;
- Marsh, Eric D.;
- Demarest, Scott T.;
- Benke, Tim A.;
- Jacoby, Peter;
- Downs, Jenny
Publication type:
Article
Table of Contents, Volume 194A, Number 7, July 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, 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. 7, p. 1, doi. 10.1002/ajmg.a.63278
Publication type:
Article
Biallelic OTUD6B variants associated with a Kabuki syndrome‐like disorder in three siblings: A clinical report and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63567
By:
- Gangaram, Balram;
- Lee, Virgina;
- Slavotinek, Anne
Publication type:
Article
Development of specific growth charts for children with Fanconi anemia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63554
By:
- Barbus, Crystal;
- Rayannavar, Arpana;
- Miller, Bradley S.;
- Jenkins, Mica J.;
- Addo, O. Yaw;
- Rayes, Ahmad;
- Ahrweiler, Natasha;
- Olson, Alisha;
- Pohlkamp, Zachary;
- Wagner, John E.;
- MacMillan, Margaret L.
Publication type:
Article
Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63552
By:
- Kisa, Pelin Teke;
- Hismi, Burcu Ozturk;
- Kocabey, Mehmet;
- Gulten, Zumrut Arslan;
- Huddam, Bulent;
- Ekinci, Selim;
- Bozkaya, Evrim;
- Akar, Harun;
- Pekuz, Ozge K. Karalar;
- Aydogan, Ayca;
- Arslan, Nur
Publication type:
Article
3q29 duplications: A cohort of 46 patients and a literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63531
By:
- Massier, Marie;
- Doco‐Fenzy, Martine;
- Egloff, Matthieu;
- Le Guillou, Xavier;
- Le Guyader, Gwenaël;
- Redon, Sylvia;
- Benech, Caroline;
- Le Millier, Karine;
- Uguen, Kevin;
- Ropars, Juliette;
- Sacaze, Elise;
- Audebert‐Bellanger, Séverine;
- Apetrei, Andreea;
- Molin, Arnaud;
- Gruchy, Nicolas;
- Vincent‐Devulder, Aline;
- Spodenkiewicz, Marta;
- Jacquin, Clémence;
- Loron, Gauthier;
- Thibaud, Marie
Publication type:
Article
PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63566
By:
- Sithambaram, Sivagamy;
- Jacob, Prince;
- Neethukrishna, Kausthubham;
- Bhavani, Gandham SriLakshmi;
- Dalal, Ashwin;
- Shah, Hitesh;
- Girisha, Katta Mohan
Publication type:
Article
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63559
By:
- Ha, Thoa;
- Morgan, Angela;
- Bartos, Meghan N.;
- Beatty, Katelyn;
- Cogné, Benjamin;
- Braun, Dominique;
- Gerber, Céline B.;
- Gaspar, Harald;
- Kopps, Anna M.;
- Rieubland, Claudine;
- Hurst, Anna C. E.;
- Amor, David J.;
- Nizon, Mathilde;
- Pasquier, Laurent;
- Pfundt, Rolph;
- Reis, André;
- Siu, Victoria Mok;
- Tessarech, Marine;
- Thompson, Michelle L.;
- Vincent, Marie
Publication type:
Article
Exploring the Low Uptake of Gene Therapy in Hemophilia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63277
Publication type:
Article
New Gene Therapy Changes Treatment Landscape for Metachromatic Leukodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63276
Publication type:
Article