Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 8

Results: 46

Risk of sudden cardiac death in EXOSC5‐related disease.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
By:
- Calame, Daniel G.;
- Herman, Isabella;
- Fatih, Jawid M.;
- Du, Haowei;
- Akay, Gulsen;
- Jhangiani, Shalini N.;
- Coban‐Akdemir, Zeynep;
- Milewicz, Dianna M.;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Marafi, Dana;
- Hunter, Jill V.;
- Fan, Yuxin;
- Lupski, James R.;
- Miyake, Christina Y.
Publication type:
Article
Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2445, doi. 10.1002/ajmg.a.62350
By:
- Poole, Rebecca L.;
- Curry, Philippa D. K.;
- Marcinkute, Ruta;
- Brewer, Carole;
- Coman, David;
- Hobson, Emma;
- Johnson, Diana;
- Lynch, Sally Ann;
- Saggar, Anand;
- Searle, Claire;
- Scurr, Ingrid;
- Turnpenny, Peter D.;
- Vasudevan, Pradeep;
- Tatton‐Brown, Katrina
Publication type:
Article
Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2546, doi. 10.1002/ajmg.a.62351
By:
- Gogoll, Laura;
- Steindl, Katharina;
- Joset, Pascal;
- Zweier, Markus;
- Baumer, Alessandra;
- Gerth‐Kahlert, Christina;
- Tutschek, Boris;
- Rauch, Anita
Publication type:
Article
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2541, doi. 10.1002/ajmg.a.62349
By:
- Chin, Hui‐Lin;
- O'Neill, Kieran;
- Louie, Kristal;
- Brown, Lindsay;
- Schlade‐Bartusiak, Kamilla;
- Eydoux, Patrice;
- Rupps, Rosemarie;
- Farahani, Ali;
- Boerkoel, Cornelius F.;
- Jones, Steven J. M.
Publication type:
Article
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2434, doi. 10.1002/ajmg.a.62348
By:
- Roessler, Helen I.;
- Heuvel, Lieke M.;
- Shields, Kathleen;
- Guilliams, Kristin P.;
- Knoers, Nine V. A. M.;
- Haaften, Gijs;
- Grange, Dorothy K.;
- Haelst, Mieke M.
Publication type:
Article
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2417, doi. 10.1002/ajmg.a.62347
By:
- Bowles, Bradley;
- Ferrer, Alejandro;
- Nishimura, Carla J.;
- Pinto e Vairo, Filippo;
- Rey, Tristan;
- Leheup, Bruno;
- Sullivan, Jennifer;
- Schoch, Kelly;
- Stong, Nicholas;
- Agolini, Emanuele;
- Cocciadiferro, Dario;
- Williams, Abigail;
- Cummings, Alex;
- Loddo, Sara;
- Genovese, Silvia;
- Roadhouse, Chelsea;
- McWalter, Kirsty;
- Wentzensen, Ingrid M.;
- Li, Chumei;
- Babovic‐Vuksanovic, Dusica
Publication type:
Article
CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2602, doi. 10.1002/ajmg.a.62343
By:
- Royer‐Bertrand, Beryl;
- Cisarova, Katarina;
- Niel Bütschi, Florence;
- Foletti, Giovanni;
- Guinchat, Vincent;
- Tran, Christel;
- Superti‐Furga, Andrea;
- Good, Jean‐Marc
Publication type:
Article
A case of migraine treatment in a patient with a clinical diagnosis of CHARGE syndrome using onabotulinum toxin A.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2514, doi. 10.1002/ajmg.a.62340
By:
- Morrison, Julia B.;
- Fisher, Bradley M.;
- Arra, Angela;
- Bezuhly, Michael;
- Blake, Kim
Publication type:
Article
Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2507, doi. 10.1002/ajmg.a.62339
By:
- Postma, Julianne K.;
- Altamirano‐Diaz, Luis;
- Rupar, C. Anthony;
- Siu, Victoria M.
Publication type:
Article
Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2561, doi. 10.1002/ajmg.a.62338
By:
- Marinakis, Nikolaos M.;
- Svingou, Maria;
- Veltra, Danai;
- Kekou, Kyriaki;
- Sofocleous, Christalena;
- Tilemis, Faidon‐Nikolaos;
- Kosma, Konstantina;
- Tsoutsou, Eirini;
- Fryssira, Helen;
- Traeger‐Synodinos, Joanne
Publication type:
Article
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2526, doi. 10.1002/ajmg.a.62345
By:
- Brunetti, Sara;
- Malerba, Laura;
- Giordano, Lucio;
- Parrini, Elena;
- Guerrini, Renzo;
- Palumbo, Giovanni;
- Parazzini, Cecilia;
- Bestetti, Ilaria;
- Accorsi, Patrizia
Publication type:
Article
COXPD9 in an individual from Puerto Rico and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2519, doi. 10.1002/ajmg.a.62344
By:
- Alsharhan, Hind;
- Muraresku, Colleen;
- Ganetzky, Rebecca D.
Publication type:
Article
Positive response to imatinib in PDGFRB‐related Kosaki overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2597, doi. 10.1002/ajmg.a.62264
By:
- Rustad, Cecilie F.;
- Tveten, Kristian;
- Prescott, Trine E.;
- Bjerkeseth, Peder O.;
- Bredrup, Cecilie;
- Pfeiffer, Helle Cecilie Viekilde
Publication type:
Article
Simpson‐Golabi‐Behmel syndrome: One family, same mutation, different outcome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2502, doi. 10.1002/ajmg.a.62263
By:
- Fernandes, Carla;
- Paúl, Alexandra;
- Venâncio, Maria Margarida;
- Ramos, Fabiana
Publication type:
Article
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2488, doi. 10.1002/ajmg.a.62261
By:
- Berkay, Ezgi Gizem;
- Elkanova, Leyla;
- Kalaycı, Tuğba;
- Uludağ Alkaya, Dilek;
- Altunoğlu, Umut;
- Cefle, Kıvanç;
- Mıhçı, Ercan;
- Nur, Banu;
- Taşdelen, Elifcan;
- Bayramoğlu, Zuhal;
- Karaman, Volkan;
- Toksoy, Güven;
- Güneş, Nilay;
- Öztürk, Şükrü;
- Palandüz, Şükrü;
- Kayserili, Hülya;
- Tüysüz, Beyhan;
- Uyguner, Zehra Oya
Publication type:
Article
Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype–phenotype associations.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2399, doi. 10.1002/ajmg.a.62259
By:
- Noordman, Iris D.;
- Fejzic, Zina;
- Bos, Melanie;
- Duijnhouwer, Anthonie L.;
- Weijers, Gert;
- Kempers, Marlies;
- Merkx, Remy;
- Velden, Janiëlle A. E. M.;
- Kapusta, Livia
Publication type:
Article
A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2477, doi. 10.1002/ajmg.a.62257
By:
- Närhi, Anu;
- Fernandes, Andrea;
- Toiviainen‐Salo, Sanna;
- Harris, Jessica;
- McInerney‐Leo, Aideen;
- Lazarus, Syndia;
- Avela, Kristiina;
- Duncan, Emma L.
Publication type:
Article
Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2409, doi. 10.1002/ajmg.a.62337
By:
- Strong, Alanna;
- Simone, Laurie;
- Krentz, Anthony;
- Vaccaro, Courtney;
- Watson, Deborah;
- Ron, Hayley;
- Kalish, Jennifer M.;
- Pedro, Helio F.;
- Zackai, Elaine H.;
- Hakonarson, Hakon
Publication type:
Article
Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2496, doi. 10.1002/ajmg.a.62262
By:
- Webster, Gregory;
- Reynolds, Meredith;
- Arva, Nicoleta C.;
- Dellefave‐Castillo, Lisa M.;
- McElligott, Hilary S.;
- Kofman, Amber;
- Laboski, Aleksandra;
- Magnetta, Defne;
- George, Alfred L.;
- McNally, Elizabeth M.;
- Puckelwartz, Megan J.
Publication type:
Article
SATB2‐associated syndrome in adolescents and adults.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2391, doi. 10.1002/ajmg.a.62258
By:
- Zarate, Yuri A.;
- Bosanko, Katherine A.;
- Caffrey, Aisling R.
Publication type:
Article
Novel deep intronic and frameshift mutations causing a TRIP11‐related disorder.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2482, doi. 10.1002/ajmg.a.62260
By:
- Qian, Yeqing;
- Hu, Gang;
- Chen, Min;
- Liu, Bei;
- Yan, Kai;
- Zhou, Caiyun;
- Yu, Yanqin;
- Dong, Minyue
Publication type:
Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
By:
- Dias, Caroline;
- Pfundt, Rolph;
- Kleefstra, Tjitske;
- Shuurs‐Hoeijmakers, Janneke;
- Boon, Elles M. J.;
- Hagen, Johanna M.;
- Zwijnenburg, Petra;
- Weiss, Marjan M.;
- Keren, Boris;
- Mignot, Cyril;
- Isapof, Arnaud;
- Weiss, Karin;
- Hershkovitz, Tova;
- Iascone, Maria;
- Maitz, Silvia;
- Feichtinger, René G.;
- Kotzot, Dieter;
- Mayr, Johannes A.;
- Ben‐Omran, Tawfeg;
- Mahmoud, Laila
Publication type:
Article
Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1<sup>G328E</sup> variant.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2572, doi. 10.1002/ajmg.a.62253
By:
- Martín‐García, Diana;
- Towler, O. Will;
- Xu, Meiqi;
- Alfonso‐Hernández, Osmany;
- Oliveira, Paula R.;
- Alonso‐Clavo, Marleny;
- Shore, Eileen M.;
- Kaplan, Frederick S.
Publication type:
Article
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2374, doi. 10.1002/ajmg.a.62251
By:
- Li, Mindy;
- Glass, Jennifer;
- Du, Xiaoli;
- Dubbs, Holly;
- Harr, Margaret Horton;
- Falk, Marni;
- Smolarek, Teresa;
- Hopkin, Robert J.;
- Zackai, Elaine;
- Sheppard, Sarah E.
Publication type:
Article
Lower birth weight in newborns with trisomy 18 and esophageal atresia.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2593, doi. 10.1002/ajmg.a.62249
By:
- Hasebe, Masaki;
- Iwatani, Sota;
- Ohyama, Shohei;
- Tamaki, Shoko;
- Yoshimoto, Seiji;
- Nakao, Hideto
Publication type:
Article
Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2295, doi. 10.1002/ajmg.a.62228
By:
- Favilla, Bianca Pereira;
- Meloni, Vera Ayres;
- Perez, Ana Beatriz;
- Moretti‐Ferreira, Danilo;
- Souza, Deise Helena;
- Bellucco, Fernanda Teixeira;
- Melaragno, Maria Isabel
Publication type:
Article
Cover Image, Volume 185A, Number 8, August 2021.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. i, doi. 10.1002/ajmg.a.61690
Publication type:
Article
Elevated holo‐transcobalamin in Gaucher disease type II: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2471, doi. 10.1002/ajmg.a.62252
By:
- Basgalupp, Suelen Porto;
- Donis, Karina Carvalho;
- Siebert, Marina;
- e Vairo, Filippo Pinto;
- Artigalas, Osvaldo;
- Camargo Pinto, Louise L.;
- Behringer, Sidney;
- Spiekerkoetter, Ute;
- Hannibal, Luciana;
- Schwartz, Ida Vanessa D.
Publication type:
Article
Death rates in the U.S. due to Leukodystrophies with pediatric forms.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2361, doi. 10.1002/ajmg.a.62248
By:
- Barczykowski, Amy L.;
- Langan, Thomas J.;
- Vanderver, Adeline;
- Jalal, Kabir;
- Carter, Randy L.
Publication type:
Article
Heritable disorders of oxygen sensing.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2576, doi. 10.1002/ajmg.a.62250
By:
- Semenza, Gregg L.
Publication type:
Article
Respiratory and otolaryngological disorders in Down syndrome from one center in Brazil.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2356, doi. 10.1002/ajmg.a.62244
By:
- Bermudez, Beatriz Elizabeth Bagatin Veleda;
- Souza do Amaral, Maria Eduarda;
- Silva Gomes, Charles;
- Novadzki, Iolanda Maria;
- Oliveira, Camila Maciel
Publication type:
Article
Genomic profiling in neuronal dyneinopathies and updated classifications.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2607, doi. 10.1002/ajmg.a.62243
By:
- Dafsari, Hormos Salimi;
- Becker, Lena‐Luise;
- von der Hagen, Maja;
- Cirak, Sebahattin
Publication type:
Article
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2345, doi. 10.1002/ajmg.a.62241
By:
- Moirangthem, Amita;
- Mandal, Kausik;
- Saxena, Deepti;
- Srivastava, Priyanka;
- Gambhir, Poonam Singh;
- Agrawal, Neha;
- Shambhavi, Arya;
- Nampoothiri, Sheela;
- Phadke, Shubha R.
Publication type:
Article
A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2586, doi. 10.1002/ajmg.a.62238
By:
- Rogers, Alice P.;
- Friend, Kathryn;
- Rawlings, Lesley;
- Barnett, Christopher P.
Publication type:
Article
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2335, doi. 10.1002/ajmg.a.62237
By:
- Villela, Darine;
- Mazzonetto, Patricia C.;
- Migliavacca, Michele P.;
- Perrone, Eduardo;
- Guida, Gustavo;
- Milanezi, Maria Fernanda G.;
- Jorge, Alexander A. L.;
- Ribeiro‐Bicudo, Lucilene A.;
- Kok, Fernando;
- Campagnari, Francine;
- Rosso‐Giuliani, Liane;
- Costa, Silvia Souza;
- Vianna‐Morgante, Angela M.;
- Pearson, Peter L.;
- Krepischi, Ana C. V.;
- Rosenberg, Carla
Publication type:
Article
From cataract to syndrome diagnosis: Revaluation of Warburg‐Micro syndrome Type 1 patients.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2325, doi. 10.1002/ajmg.a.62234
By:
- Mutlu Albayrak, Hatice;
- Elçioğlu, Nursel H.;
- Yeter, Burcu;
- Karaer, Kadri
Publication type:
Article
Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2582, doi. 10.1002/ajmg.a.62233
By:
- Gonzalez, Aixa;
- Kapur, Sunaina;
- Walsh, Matthew;
- Vengoechea, Jaime
Publication type:
Article
Table of Contents, Volume 185A, Number 8, August 2021.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2283, doi. 10.1002/ajmg.a.61685
Publication type:
Article
Promising Results with Ex Vivo Lentiviral HSPC Gene Therapy in ADA‐SCID.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2291, doi. 10.1002/ajmg.a.61688
Publication type:
Article
Geneticist Workforce Faces Critical Shortage.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2290, doi. 10.1002/ajmg.a.61687
Publication type:
Article
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
By:
- Keehan, Laura;
- Jiang, Ming‐Ming;
- Li, Xiaohui;
- Marom, Ronit;
- Dai, Hongzheng;
- Murdock, David;
- Liu, Pengfei;
- Hunter, Jill V.;
- Heaney, Jason D.;
- Robak, Laurie;
- Emrick, Lisa;
- Lotze, Timothy;
- Blieden, Lauren S.;
- Lewis, Richard Alan;
- Levin, Alex V.;
- Capasso, Jenina;
- Craigen, William J.;
- Rosenfeld, Jill A.;
- Lee, Brendan;
- Burrage, Lindsay C.
Publication type:
Article
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2464, doi. 10.1002/ajmg.a.62231
By:
- Bruyndonckx, Luc;
- Vogelzang, Judith L.;
- Bugiani, Marianna;
- Straver, Bart;
- Kuipers, Irene M.;
- Onland, Wes;
- Nannenberg, Eline A.;
- Clur, Sally‐Ann;
- Crabben, Saskia N.
Publication type:
Article
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2455, doi. 10.1002/ajmg.a.62230
By:
- Mushiba, Aziza M.;
- FAQEIH, EISSA;
- Saleh, Mohammed A.;
- Ramzan, Khushnooda;
- Imtiaz, Faiqa;
- Al‐Owain, Mohammed;
- Alhashem, Amal M.;
- Alswaid, Abdulrahman
Publication type:
Article
Evaluation of sleep‐disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2306, doi. 10.1002/ajmg.a.62229
By:
- Ademhan Tural, Dilber;
- Emiralioglu, Nagehan;
- Dogru, Deniz;
- Ozsezen, Beste;
- Ipek, Omer Faruk;
- Sunman, Birce;
- Nayir Buyuksahin, Halime;
- Guzelkas, Ismail;
- Ciki, Kismet;
- Kilic, Kubra;
- Vardar Yagli, Naciye;
- Yalcin, Ebru;
- Kiper, Nural;
- Sivri, Serap;
- Ozcelik, Ugur
Publication type:
Article
Publication schedule for 2021.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2289, doi. 10.1002/ajmg.a.61686
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2293, doi. 10.1002/ajmg.a.61689
Publication type:
Article