Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 7

Results: 46
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    A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747
    By:
    • Merriweather, Ashanta;
    • Murdock, David R.;
    • Rosenfeld, Jill A.;
    • Dai, Hongzheng;
    • Ketkar, Shamika;
    • Emrick, Lisa;
    • Nicholas, Sarah;
    • Lewis, Richard A.;
    • Bacino, Carlos A.;
    • Scott, Daryl A.;
    • Lee, Brendan;
    • Sutton, Vernon Reid;
    • Potocki, Lorraine;
    • Burrage, Lindsay C.
    Publication type:
    Article
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    Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2061, doi. 10.1002/ajmg.a.62742
    By:
    • Karakilic‐Ozturan, Esin;
    • Altunoglu, Umut;
    • Ozturk, Ayse Pinar;
    • Kardelen Al, Asli Derya;
    • Yavas Abali, Zehra;
    • Avci, Sahin;
    • Wollnik, Bernd;
    • Poyrazoglu, Sukran;
    • Bas, Firdevs;
    • Uyguner, Zehra Oya;
    • Kayserili, Hülya;
    • Darendeliler, Feyza
    Publication type:
    Article
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    Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2036, doi. 10.1002/ajmg.a.62739
    By:
    • Lehalle, Daphné;
    • Bruel, Ange‐Line;
    • Vitobello, Antonio;
    • Denommé‐Pichon, Anne‐Sophie;
    • Duffourd, Yannis;
    • Assoum, Mirna;
    • Amiel, Jeanne;
    • Baujat, Geneviève;
    • Bessieres, Bettina;
    • Bigoni, Stefania;
    • Burglen, Lydie;
    • Captier, Guillaume;
    • Dard, Rodolphe;
    • Edery, Patrick;
    • Fortunato, Fernanda;
    • Geneviève, David;
    • Goldenberg, Alice;
    • Guibaud, Laurent;
    • Héron, Delphine;
    • Holder‐Espinasse, Muriel
    Publication type:
    Article
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    Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1‐congenital disorder of glycosylation) and response to l‐fucose therapy: Insights from two new families and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2005, doi. 10.1002/ajmg.a.62737
    By:
    • Tahata, Shawn;
    • Raymond, Kimiyo;
    • Quade, Marie;
    • Barnes, Sara;
    • Boyer, Suzanne;
    • League, Stacy;
    • Kumanovics, Attila;
    • Abraham, Roshini;
    • Jacob, Eapen;
    • Menon, Prem;
    • Morava, Eva
    Publication type:
    Article
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    Pitfalls of X‐chromosome inactivation testing in females with Fabry disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1979, doi. 10.1002/ajmg.a.62728
    By:
    • Řeboun, Martin;
    • Sikora, Jakub;
    • Magner, Martin;
    • Wiederlechnerová, Helena;
    • Černá, Alena;
    • Poupětová, Helena;
    • Štorkánova, Gabriela;
    • Mušálková, Dita;
    • Dostálová, Gabriela;
    • Goláň, Lubor;
    • Linhart, Aleš;
    • Dvořáková, Lenka
    Publication type:
    Article
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    Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
    By:
    • Taşdelen, Elifcan;
    • Calame, Daniel G.;
    • Akay, Gulsen;
    • Mitani, Tadahiro;
    • Fatih, Jawid M.;
    • Herman, Isabella;
    • Du, Haowei;
    • Coban‐Akdemir, Zeynep;
    • Marafi, Dana;
    • Jhangiani, Shalini N.;
    • Posey, Jennifer E.;
    • Gibbs, Richard A.;
    • Altıparmak, Taylan;
    • Kutlay, Nüket Yürür;
    • Lupski, James R.;
    • Pehlivan, Davut
    Publication type:
    Article
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    Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2129, doi. 10.1002/ajmg.a.62719
    By:
    • Saettini, Francesco;
    • Fazio, Grazia;
    • Bonati, Maria Teresa;
    • Moratto, Daniele;
    • Massa, Valentina;
    • Di Fede, Elisabetta;
    • Castiglioni, Silvia;
    • Marchetti, Daniela;
    • Chiarini, Marco;
    • Sottini, Alessandra;
    • Iascone, Maria;
    • Cazzaniga, Giovanni;
    • Imberti, Luisa;
    • Biondi, Andrea;
    • Gervasini, Cristina;
    • Badolato, Raffaele
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1941, doi. 10.1002/ajmg.a.62305
    Publication type:
    Article
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    Publication schedule for 2022.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1937, doi. 10.1002/ajmg.a.62302
    Publication type:
    Article
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