Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 12

Results: 36
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    Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63840
    By:
    • Nisbet, Alex F.;
    • Viswanathan, Aravind;
    • George, Andrew M.;
    • Arias, Pedro;
    • Klein, Steven D.;
    • Nevado, Julian;
    • Parra, Alejandro;
    • Pascual, Patricia;
    • Romeo, Dominic J.;
    • Tenorio‐Castaño, Jair;
    • Taylor, Jesse A.;
    • Zackai, Elaine H.;
    • Lapunzina, Pablo;
    • Kalish, Jennifer M.
    Publication type:
    Article
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    CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63836
    By:
    • de Queiroz Júnior, Amaro Freire;
    • Sanseverino, Maria Teresa Vieira;
    • Collares, Marcus Vinicius Martins;
    • Fornari, Adriana;
    • do Virmond, Luiza Amaral;
    • Filho, João Bosco Oliveira;
    • Artigalás, Osvaldo;
    • Félix, Têmis Maria
    Publication type:
    Article
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    Prevalence rates for ectodermal dysplasia syndromes.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63832
    By:
    • Butcher, Clayton;
    • Abbott, Becky M.;
    • Grange, Dorothy;
    • Fete, Mary;
    • Meyer, Beau;
    • Spinka, Christine;
    • Fete, Timothy
    Publication type:
    Article
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    Double somatic mosaicism in Marfan syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63831
    By:
    • Carrera, Ignacio Arroyo;
    • Amor‐Salamanca, Almudena;
    • Isidro, Elena Márquez;
    • Pérez‐Barbeito, Marlene;
    • Sacristán, Ana Raquel Barrio;
    • Ochoa, Juan Pablo
    Publication type:
    Article
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    Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63830
    By:
    • Ventayol‐Guirado, Marc;
    • Torres, Laura;
    • Asensio‐Landa, Victor;
    • Pérez‐Granero, Ángeles;
    • Madrid, Maria Isabel;
    • Hernandez‐Rodriguez, Jessica;
    • Llull‐Alberti, Maria Victoria;
    • Lumbreras, Javier;
    • Escribà, Silvia;
    • Pons, Monserrat;
    • Roldan, Jordi;
    • Martínez‐López, Iciar;
    • Heine‐Suñer, Damian;
    • Santos‐Simarro, Fernando
    Publication type:
    Article
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    Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63824
    By:
    • Chelleri, Cristina;
    • Brolatti, Noemi;
    • De Marco, Patrizia;
    • Ognibene, Marzia;
    • Diana, Maria Cristina;
    • Madia, Francesca;
    • Duca, Marco Di;
    • Santangelo, Andrea;
    • Capra, Valeria;
    • Striano, Pasquale;
    • Zara, Federico;
    • Scala, Marcello
    Publication type:
    Article
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    Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63820
    By:
    • Plante‐Bordeneuve, Pauline;
    • Boussion, Simon;
    • Rama, Mélanie;
    • Brunelle, Perrine;
    • Thuillier, Caroline;
    • Vanlerberghe, Clémence;
    • Caumes, Roseline;
    • Colson, Cindy;
    • Ait‐Yahya, Emilie;
    • Ghoumid, Jamal;
    • Smol, Thomas
    Publication type:
    Article
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    Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63819
    By:
    • Klamut, Natalia;
    • Bothwell, Samantha;
    • Carl, Alexandra E.;
    • Bamba, Vaneeta;
    • Law, Jennifer R.;
    • Brickman, Wendy J.;
    • Klein, Karen O.;
    • Kanakatti Shankar, Roopa;
    • Pinnaro, Catherina T.;
    • Fechner, Patricia Y.;
    • Prakash, Siddharth K.;
    • Gutmark‐Little, Iris;
    • Howell, Susan;
    • Tartaglia, Nicole;
    • Good, Marybel;
    • Ranallo, Kelly C.;
    • Davis, Shanlee M.
    Publication type:
    Article
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    Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63812
    By:
    • Maya‐González, Carolina;
    • Delgado‐Vega, Angelica Maria;
    • Taylan, Fulya;
    • Lagerstedt Robinson, Kristina;
    • Hansson, Lina;
    • Pal, Niklas;
    • Fagman, Henrik;
    • Puls, Florian;
    • Wessman, Sandra;
    • Stenman, Jakob;
    • Georgantzi, Kleopatra;
    • Fransson, Susanne;
    • Díaz De Ståhl, Teresita;
    • Ek, Torben;
    • Palmer, Ruth;
    • Tesi, Bianca;
    • Kogner, Per;
    • Martinsson, Tommy;
    • Nordgren, Ann
    Publication type:
    Article
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    Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63817
    By:
    • Nomakuchi, Tomoki T.;
    • Teferedegn, Eden Y.;
    • Li, Dong;
    • Muirhead, Kayla J.;
    • Dubbs, Holly;
    • Leonard, Jacqueline;
    • Muraresku, Colleen;
    • Sergio, Emily;
    • Arnold, Kaley;
    • Pizzino, Amy;
    • Skraban, Cara M.;
    • Zackai, Elaine H.;
    • Wang, Kai;
    • Ganetzky, Rebecca D.;
    • Vanderver, Adeline L.;
    • Ahrens‐Nicklas, Rebecca C.;
    • Bhoj, Elizabeth J. K.
    Publication type:
    Article
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    Expanding the clinical phenotype and variant spectrum associated with RFX7.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63816
    By:
    • Sisroe, Talia;
    • Santos, Attila Dos;
    • Rippert, Alyssa L.;
    • Gray, Christopher;
    • Skraban, Cara M.;
    • Nelson, Beverly;
    • Tefft, Sarah;
    • Helbig, Ingo;
    • Li, Dong;
    • Bhoj, Elizabeth J.;
    • Sobering, Andrew K.
    Publication type:
    Article
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    Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63818
    By:
    • Sund, Kristen L.;
    • Liu, Jie;
    • Lee, Joyce;
    • Garbe, John;
    • Abdelhamed, Zakia;
    • Maag, Chelsey;
    • Hallinan, Barbara;
    • Wu, Steven W.;
    • Sperry, Ethan;
    • Deshpande, Archana;
    • Stottmann, Rolf;
    • Smolarek, Teresa A.;
    • Dyer, Lisa M.;
    • Hestand, Matthew S.
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63298
    Publication type:
    Article
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