Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 5

Results: 46

Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1589, doi. 10.1002/ajmg.a.62147
By:
- Rabin, Rachel;
- Hirsch, Yoel;
- Johansson, Martin M.;
- Ekstein, Joseph;
- Ekstein, Ahron;
- Pappas, John
Publication type:
Article
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1486, doi. 10.1002/ajmg.a.62146
By:
- Matalon, Dena R.;
- Stevenson, David A.;
- Bhoj, Elizabeth J.;
- Santani, Avni B.;
- Keena, Beth;
- Cohen, Meryl S.;
- Lin, Angela E.;
- Sheppard, Sarah E.;
- Zackai, Elaine H.
Publication type:
Article
Presacral neuroendocrine tumors associated with the Currarino syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1582, doi. 10.1002/ajmg.a.62145
By:
- Scott, Aaron T.;
- Tessmann, Jonathon B.;
- Braun, Terry;
- Brown, Bartley;
- Breheny, Patrick J.;
- Darbro, Benjamin W.;
- Bellizzi, Andrew M.;
- Dillon, Joseph S.;
- O'Dorisio, Thomas M.;
- Alderson, Alice;
- Bennett, Bonita;
- Bernat, John A.;
- Metz, David C.;
- Howe, James R.
Publication type:
Article
Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1575, doi. 10.1002/ajmg.a.62144
By:
- Nuovo, Sara;
- Brankovic, Vesna;
- Caputi, Caterina;
- Casella, Antonella;
- Nigro, Vincenzo;
- Leuzzi, Vincenzo;
- Valente, Enza Maria
Publication type:
Article
Childhood prevalence of achondroplasia in New South Wales and the Australian Capital Territory, Australia.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1481, doi. 10.1002/ajmg.a.62142
By:
- Tofts, Louise;
- Armstrong, Jennifer;
- Pacey, Verity
Publication type:
Article
Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1569, doi. 10.1002/ajmg.a.62141
By:
- Meira, Joanna Goes Castro;
- Magalhães, Bruna Souza;
- Ferreira, Isabella Brige Bonifácio;
- Tavares, Dione Fernandes;
- Kobayashi, Gerson Shigeru;
- Leão, Emília Katiane E. A.
Publication type:
Article
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1561, doi. 10.1002/ajmg.a.62140
By:
- Honjo, Rachel Sayuri;
- Castro, Matheus Augusto Araújo;
- Ferraciolli, Suely Fazio;
- Soares Junior, Luiz Alberto Valente;
- Pastorino, Antonio Carlos;
- Bertola, Débora Romeo;
- Miyake, Noriko;
- Matsumoto, Naomichi;
- Kim, Chong Ae
Publication type:
Article
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1468, doi. 10.1002/ajmg.a.62138
By:
- Abe‐Hatano, Chihiro;
- Iida, Aritoshi;
- Kosugi, Shunichi;
- Momozawa, Yukihide;
- Terao, Chikashi;
- Ishikawa, Keiko;
- Okubo, Mariko;
- Hachiya, Yasuo;
- Nishida, Hiroya;
- Nakamura, Kazuyuki;
- Miyata, Rie;
- Murakami, Chie;
- Takahashi, Kan;
- Hoshino, Kyoko;
- Sakamoto, Haruko;
- Ohta, Sayaka;
- Kubota, Masaya;
- Takeshita, Eri;
- Ishiyama, Akihiko;
- Nakagawa, Eiji
Publication type:
Article
Further delineation of SMG9‐related heart and brain malformation syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1624, doi. 10.1002/ajmg.a.62139
By:
- Altuwaijri, Norah;
- Abdelbaky, Mona;
- Alhashem, Amal;
- Alrakaf, Maha;
- Hashem, Mais;
- Alzahrani, Fatema;
- Alkuraya, Fowzan S.
Publication type:
Article
ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1619, doi. 10.1002/ajmg.a.62136
By:
- Croitoru, David;
- Lu, Justin D.;
- Lara‐Corrales, Irene;
- Kannu, Peter;
- Pope, Elena
Publication type:
Article
Language in young females with fragile X syndrome: Influence on the neurocognitive profile and adaptive behavior.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1448, doi. 10.1002/ajmg.a.62130
By:
- Joga‐Elvira, Lorena;
- Roche‐Martínez, Ana;
- Joga, María‐Luisa;
- Jacas‐Escarcelle, Carlos;
- Brun‐Gasca, Carme
Publication type:
Article
Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1525, doi. 10.1002/ajmg.a.62120
By:
- Silva‐Sánchez, María P.;
- Alvarado‐Socarras, Jorge L.;
- Castro‐Monsalve, Javier;
- Meneses, Keyla Milena;
- Santiago, Justo;
- Prada, Carlos E.
Publication type:
Article
X‐linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1550, doi. 10.1002/ajmg.a.62134
By:
- Gangadaran, Prabakaran;
- Chaudhry, Chakshu;
- Panigrahi, Inusha;
- Kumari, Anu;
- Kaur, Anupriya
Publication type:
Article
Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1544, doi. 10.1002/ajmg.a.62132
By:
- Yamada, Mamiko;
- Kubota, Kazumi;
- Uchida, Atsuro;
- Yagihashi, Tatsuhiko;
- Kawasaki, Masahito;
- Suzuki, Hisato;
- Uehara, Tomoko;
- Takenouchi, Toshiki;
- Kurosaka, Hiroshi;
- Kosaki, Kenjiro
Publication type:
Article
The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma?
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1461, doi. 10.1002/ajmg.a.62131
By:
- Maya, Idit;
- Kahana, Sarit;
- Agmon‐Fishman, Ifaat;
- Klein, Cochava;
- Matar, Reut;
- Berger, Racheli;
- Josefsberg, Sagi Ben Yehoshua;
- Shohat, Mordechai;
- Marom, Daphna;
- Basel‐Salmon, Lina;
- Sagi‐Dain, Lena
Publication type:
Article
Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok‐Fisher syndrome suggests the presence of a POU3F3‐related SNIBFIS endophenotype: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1554, doi. 10.1002/ajmg.a.62135
By:
- Torun, Deniz;
- Arslan, Mutluay;
- Yüksel, Zafer
Publication type:
Article
Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low‐level mosaicism for trisomy 14.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1538, doi. 10.1002/ajmg.a.62128
By:
- Lindgren, Valerie;
- Cobian, Katherine;
- Bhat, Gifty
Publication type:
Article
Surveillance guidelines for children with trisomy 13.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1631, doi. 10.1002/ajmg.a.62133
By:
- Kepple, Jeffrey W.;
- Fishler, Kristen P.;
- Peeples, Eric S.
Publication type:
Article
Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1437, doi. 10.1002/ajmg.a.62127
By:
- Guzewicz, Lindsey;
- Howell, Susan;
- Crerand, Canice E.;
- Umbaugh, Hailey;
- Nokoff, Natalie J.;
- Barker, Jennifer;
- Davis, Shanlee M.
Publication type:
Article
Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1614, doi. 10.1002/ajmg.a.62125
By:
- Hadzipasic, Muhamed;
- Karsten, Madeline B.;
- Olson, Heather;
- Rodan, Lance;
- Lidov, Hart;
- Prabhu, Sanjay P.;
- Wright, Karen;
- Fehnel, Katie Pricola
Publication type:
Article
Sleep and behavior in children and adolescents with tuberous sclerosis complex.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1421, doi. 10.1002/ajmg.a.62123
By:
- Zambrelli, Elena;
- Turner, Katherine;
- Peron, Angela;
- Leidi, Alessia;
- La Briola, Francesca;
- Vignoli, Aglaia;
- Canevini, Maria Paola
Publication type:
Article
Maternal health and pregnancy outcome in diagnosed and undiagnosed Marfan syndrome: A registry‐based study.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1414, doi. 10.1002/ajmg.a.62122
By:
- Groth, Kristian A.;
- Nielsen, Birgitte B.;
- Sheyanth, Inger N.;
- Gravholt, Claus H.;
- Andersen, Niels H.;
- Stochholm, Kirstine
Publication type:
Article
A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1532, doi. 10.1002/ajmg.a.62121
By:
- Peter, Beate;
- Scherer, Nancy;
- Liang, Winnie S.;
- Pophal, Stephen;
- Nielsen, Colby;
- Grebe, Theresa A.
Publication type:
Article
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1430, doi. 10.1002/ajmg.a.62126
By:
- Chenbhanich, Jirat;
- Hu, Yan;
- Hetts, Steven;
- Cooke, Daniel;
- Dowd, Christopher;
- Devine, Patrick;
- Russell, Bianca;
- Kang, Sung Hae L.;
- Chang, Vivian Y.;
- Abla, Adib A.;
- Cornett, Patricia;
- Yeh, Iwei;
- Lee, Hane;
- Martinez‐Agosto, Julian A.;
- Frieden, Ilona J.;
- Shieh, Joseph T.
Publication type:
Article
A founder mutation in TCTN2 causes Meckel‐Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1610, doi. 10.1002/ajmg.a.62119
By:
- Litz Philipsborn, Shira;
- Hartmajer, Shulamit;
- Shtorch Asor, Atalia;
- Vinovezky, Mika;
- Regev, Miriam;
- Singer, Amihood;
- Reinstein, Eyal
Publication type:
Article
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1606, doi. 10.1002/ajmg.a.62118
By:
- Das, Sweta;
- Godbole, Koumudi;
- Abraham, Suneetha Susan Cleave;
- Ganesan, Paramasivam;
- Kamdar, Payal;
- Danda, Sumita
Publication type:
Article
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1519, doi. 10.1002/ajmg.a.62117
By:
- Eno, Celeste C.;
- Graakjaer, Jesper;
- Svaneby, Dea;
- Nizon, Mathilde;
- Kianmahd, Jessica;
- Signer, Rebecca;
- Martinez‐Agosto, Julian A.;
- Quintero‐Rivera, Fabiola
Publication type:
Article
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1363, doi. 10.1002/ajmg.a.62116
By:
- Sedláčková, Lucie;
- Štěrbová, Katalin;
- Vlčková, Markéta;
- Maulisová, Alice;
- Laššuthová, Petra
Publication type:
Article
Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1602, doi. 10.1002/ajmg.a.62115
By:
- Majethia, Purvi;
- Girisha, Katta Mohan
Publication type:
Article
Characterizing upper limb function in the context of activities of daily living in CLN3 disease.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1399, doi. 10.1002/ajmg.a.62114
By:
- Hildenbrand, Hanna;
- Wickstrom, Jordan;
- Parks, Rebecca;
- Zampieri, Cris;
- Nguyen, Thuy‐Tien;
- Thurm, Audrey;
- Jenkins, Kisha;
- Alter, Katharine E.;
- Matsubara, Jesse;
- Hammond, Dylan;
- Soldatos, Ariane;
- Porter, Forbes D.;
- Dang Do, An N.
Publication type:
Article
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1515, doi. 10.1002/ajmg.a.62113
By:
- Cadieux‐Dion, Maxime;
- Hughes, Susan;
- Engleman, Kendra;
- Rush, Eric T.;
- Saunders, Carol
Publication type:
Article
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2‐opathy.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1509, doi. 10.1002/ajmg.a.62111
By:
- Marchionni, Enrica;
- Agolini, Emanuele;
- Mastromoro, Gioia;
- Guadagnolo, Daniele;
- Coppola, Giulia;
- Roggini, Mario;
- Riminucci, Mara;
- Novelli, Antonio;
- Giancotti, Antonella;
- Corsi, Alessandro;
- Pizzuti, Antonio
Publication type:
Article
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1504, doi. 10.1002/ajmg.a.62110
By:
- Masih, Suzena;
- Moirangthem, Amita;
- Phadke, Shubha R.
Publication type:
Article
Living history biography: An afterthought.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1355, doi. 10.1002/ajmg.a.62109
By:
- Opitz, John M.
Publication type:
Article
Manifestations of thrombospondin type‐1 domain‐containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1598, doi. 10.1002/ajmg.a.62108
By:
- Al Rawi, Wafaa N.;
- Ibrahim, Fatima H.;
- El Nakeib, Omar A. S.;
- Al Zidgali, Faisal M.
Publication type:
Article
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1498, doi. 10.1002/ajmg.a.62106
By:
- Jarmolowicz, Anna I.;
- Baker, Emma K.;
- Bartlett, Essra;
- Francis, David;
- Ling, Ling;
- Gamage, Dinusha;
- Delatycki, Martin B.;
- Godler, David E.
Publication type:
Article
Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1494, doi. 10.1002/ajmg.a.62105
By:
- Puisney‐Dakhli, Chloé;
- Gubana, Francesca;
- Petit, François;
- Bouchghoul, Hanane;
- Gautier, Valérie;
- Martinovic, Jelena;
- Tachdjian, Gérard;
- Receveur, Aline
Publication type:
Article
Clinical characterization of individuals with the distal 1q21.1 microdeletion.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1388, doi. 10.1002/ajmg.a.62104
By:
- Edwards, Stacey D.;
- Schulze, Katharina V.;
- Rosenfeld, Jill A.;
- Westerfield, Lauren E.;
- Gerard, Amanda;
- Yuan, Bo;
- Grigorenko, Elena L.;
- Posey, Jennifer E.;
- Bi, Weimin;
- Liu, Pengfei
Publication type:
Article
Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1379, doi. 10.1002/ajmg.a.62103
By:
- Stevenson, Roger E.
Publication type:
Article
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1366, doi. 10.1002/ajmg.a.62102
By:
- Glinton, Kevin E.;
- Hurst, Anna C. E.;
- Bowling, Kevin M.;
- Cristian, Ingrid;
- Haynes, Devon;
- Adstamongkonkul, Dusit;
- Schnappauf, Oskar;
- Beck, David B.;
- Brewer, Carole;
- Parikh, Aditi Shah;
- Shinde, Deepali N.;
- Donaldson, Alan;
- Brautbar, Ariel;
- Koene, Saskia;
- Haeringen, Arie;
- Piton, Amélie;
- Capri, Yline;
- Furlan, Margherita;
- Gardella, Elena;
- Møller, Rikke Steensbjerre
Publication type:
Article
Cover Image, Volume 185A, Number 5, May 2021.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. i, doi. 10.1002/ajmg.a.61672
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1354, doi. 10.1002/ajmg.a.61671
Publication type:
Article
Glutamine Linked to Cell Senescence and Aging.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1352, doi. 10.1002/ajmg.a.61670
Publication type:
Article
Identical Twins not as "Identical" as Previously Thought.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1351, doi. 10.1002/ajmg.a.61669
Publication type:
Article
Publication schedule for 2021.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1350, doi. 10.1002/ajmg.a.61668
Publication type:
Article
Table of Contents, Volume 185A, Number 5, May 2021.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1345, doi. 10.1002/ajmg.a.61667
Publication type:
Article