Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 7

Results: 46

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2102, doi. 10.1002/ajmg.a.62245
By:
- Debs, Sarah;
- Ferreira, Carlos R.;
- Groden, Catherine;
- Kim, H. Jeffrey;
- King, Kelly A.;
- King, Monique C.;
- Lehky, Tanya;
- Cowen, Edward W.;
- Brown, Laura H.;
- Merideth, Melissa;
- Owen, Carter M.;
- Macnamara, Ellen;
- Toro, Camilo;
- Gahl, William A.;
- Soldatos, Ariane
Publication type:
Article
Sleep‐disordered breathing and its management in children with rare skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2108, doi. 10.1002/ajmg.a.62236
By:
- Nguyen, Duy Bo;
- Khirani, Sonia;
- Griffon, Lucie;
- Baujat, Geneviève;
- Michot, Caroline;
- Marzin, Pauline;
- Rondeau, Sophie;
- Luscan, Romain;
- Couloigner, Vincent;
- Pejin, Zagorka;
- Zerah, Michel;
- Cormier‐Daire, Valérie;
- Fauroux, Brigitte
Publication type:
Article
Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2094, doi. 10.1002/ajmg.a.62227
By:
- Mak, Bryan C.;
- Sanchez Russo, Rossana;
- Gambello, Michael J.;
- Fleischer, Nicole;
- Black, Emily D.;
- Leslie, Elizabeth;
- Murphy, Melissa M.;
- Mulle, Jennifer Gladys
Publication type:
Article
Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2084, doi. 10.1002/ajmg.a.62226
By:
- Uehara, Tomoko;
- Sanuki, Rikako;
- Ogura, Yurie;
- Yokoyama, Atsushi;
- Yoshida, Takeshi;
- Futagawa, Hiroshi;
- Yoshihashi, Hiroshi;
- Yamada, Mamiko;
- Suzuki, Hisato;
- Takenouchi, Toshiki;
- Matsubara, Kohei;
- Hirata, Hiromi;
- Kosaki, Kenjiro;
- Takano‐Shimizu, Toshiyuki
Publication type:
Article
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2204, doi. 10.1002/ajmg.a.62225
By:
- Veldman, Bram C. F.;
- Kuper, Willemijn F. E.;
- Lilien, Marc;
- Schuurs‐Hoeijmakers, Janneke H. M.;
- Marcelis, Carlo;
- Phan, Milan;
- Hettinga, Ymkje;
- Talsma, Herman E.;
- Hasselt, Peter M.;
- Haijes, Hanneke A.
Publication type:
Article
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2070, doi. 10.1002/ajmg.a.62224
By:
- Ewing, Adam D.;
- Cheetham, Seth W.;
- McGill, James J.;
- Sharkey, Michael;
- Walker, Rick;
- West, Jennifer A.;
- West, Malcolm J.;
- Summers, Kim M.
Publication type:
Article
Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2198, doi. 10.1002/ajmg.a.62223
By:
- Karakaya, Taner;
- Bilgic, Ali Evren;
- Eris, Deniz;
- Baser, Burak;
- Mermer, Serdar;
- Yildiz, Onur
Publication type:
Article
Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2211, doi. 10.1002/ajmg.a.62222
By:
- Ricciardello, Arianna;
- Tomaiuolo, Pasquale;
- Persico, Antonio M.
Publication type:
Article
Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2241, doi. 10.1002/ajmg.a.62221
By:
- Efthymiou, Stephanie;
- Herman, Isabella;
- Rahman, Fatima;
- Anwar, Najwa;
- Maroofian, Reza;
- Yip, Janice;
- Mitani, Tadahiro;
- Calame, Daniel G.;
- Hunter, Jill V.;
- Sutton, V. Reid;
- Gulec, Elif;
- Duan, Ruizhi;
- Fatih, Jawid M.;
- Marafi, Dana;
- Pehlivan, Davut;
- Jhangiani, Shalini N.;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Maqbool, Shazia;
- Lupski, James R.
Publication type:
Article
Natural history study of adults with Wolf–Hirschhorn syndrome 2: Patient‐reported outcomes study.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2065, doi. 10.1002/ajmg.a.62220
By:
- Carey, John C.;
- Lortz, Amanda;
- Mendel, Alyssa;
- Battaglia, Agatino
Publication type:
Article
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2190, doi. 10.1002/ajmg.a.62219
By:
- Rosano, Kristen K.;
- Wegner, Daniel J.;
- Shinawi, Marwan;
- Baldridge, Dustin;
- Bucelli, Robert C.;
- Dahiya, Sonika;
- White, Frances V.;
- Willing, Marcia C.;
- McAllister, William;
- Taft, Ryan J.;
- Bluske, Krista;
- Buchanan, Amanda;
- Cole, Francis Sessions;
- Wambach, Jennifer A.
Publication type:
Article
Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4‐related arteriopathy.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2180, doi. 10.1002/ajmg.a.62218
By:
- Haan, Eric A.;
- Chamalaun, Francois H.;
- Chamuleau, Steven A. J.;
- Arnolda, Leonard F.;
- Slavotinek, John P.;
- Wise, Nadia C.;
- Gunawardane, Dimuth N.;
- Schwarze, Ulrike;
- Byers, Peter H.;
- Gabb, Genevieve M.
Publication type:
Article
Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2056, doi. 10.1002/ajmg.a.62217
By:
- Zamariolli, Malú;
- Burssed, Bruna;
- Moysés‐Oliveira, Mariana;
- Colovati, Mileny;
- Bellucco, Fernanda Teixeira da Silva;
- Santos, Leonardo Caires;
- Alvarez Perez, Ana Beatriz;
- Bragagnolo, Silvia;
- Melaragno, Maria Isabel
Publication type:
Article
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2175, doi. 10.1002/ajmg.a.62216
By:
- Hanafusa, Hiroaki;
- Hidaka, Yoshihiko;
- Yamaguchi, Tomomi;
- Shimojo, Hisashi;
- Tsukahara, Takanori;
- Murase, Tsubasa;
- Matsuoka, Daisuke;
- Chiba, Nao;
- Shimada, Shun;
- Morokawa, Hirokazu;
- Omori, Norio;
- Minoura, Hironori;
- Nagano, China;
- Takano, Kyoko;
- Nakamura, Katsuya;
- Wakui, Keiko;
- Fukushima, Yoshimitsu;
- Uehara, Takeshi;
- Nakazawa, Yozo;
- Iijima, Kazumoto
Publication type:
Article
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2168, doi. 10.1002/ajmg.a.62215
By:
- Strong, Alanna;
- O'Grady, Gina;
- Shih, Evelyn;
- Bishop, Jonathan R.;
- Loomes, Kathleen;
- Diamond, Tamir;
- Hartung, Erum A.;
- Wong, William;
- Cuddapah, Sanmati;
- Cahill, Anne Marie;
- Hou, Cuiping;
- Slater, Diana;
- Vaccaro, Courtney;
- Watson, Deborah;
- Li, Dong;
- Hakonarson, Hakon
Publication type:
Article
Natural history of alpha‐thalassemia X‐linked intellectual disability syndrome: A case report of a 45‐year‐old man.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2164, doi. 10.1002/ajmg.a.62213
By:
- Arvio, Maria;
- Lähdetie, Jaana
Publication type:
Article
Hyperbaric oxygen management of recurrent cellulitis in poikiloderma with neutropenia.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2150, doi. 10.1002/ajmg.a.62204
By:
- Roebke, Logan J.;
- Vander Maten, Josh W.;
- Alkhoury, Ghattas
Publication type:
Article
Craniosynostosis is a feature of CHD7‐related CHARGE syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2160, doi. 10.1002/ajmg.a.62208
By:
- De Luca, Chiara;
- Picone, Simonetta;
- Cassina, Matteo;
- Marziali, Simone;
- Morlino, Silvia;
- Camerota, Letizia;
- Tamburrini, Gianpiero;
- Castori, Marco;
- Paolillo, Piermichele;
- Salviati, Leonardo;
- Brancati, Francesco
Publication type:
Article
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2046, doi. 10.1002/ajmg.a.62207
By:
- Wolfe, Rachel M.;
- Mohsen, Al‐Walid;
- Walsh Vockley, Cate;
- Bertrand, Carol A.;
- Nicholls, Robert D.;
- Heiman, Paige;
- Seibold, Leah M.;
- Vockley, Jerry;
- Ghaloul‐Gonzalez, Lina
Publication type:
Article
Choose your words carefully.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1953, doi. 10.1002/ajmg.a.62206
By:
- Robin, Nathaniel H.
Publication type:
Article
Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2153, doi. 10.1002/ajmg.a.62205
By:
- Coulie, Richard;
- Niyazov, Dmitriy M.;
- Gambello, Michael J.;
- Fastré, Elodie;
- Brouillard, Pascal;
- Vikkula, Miikka
Publication type:
Article
Hospital care of patients with inherited cardiomyopathies in Germany during the Covid‐19 pandemic insights from the German‐wide Helios hospital network.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2278, doi. 10.1002/ajmg.a.62209
By:
- Husser, Daniela;
- Pellissier, Vincent;
- Hohenstein, Sven;
- Ueberham, Laura;
- König, Sebastian;
- Hindricks, Gerhard;
- Meier‐Hellmann, Andreas;
- Kuhlen, Ralf;
- Bollmann, Andreas
Publication type:
Article
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2238, doi. 10.1002/ajmg.a.62203
By:
- Di Fede, Elisabetta;
- Peron, Angela;
- Colombo, Elisa Adele;
- Gervasini, Cristina;
- Vignoli, Aglaia
Publication type:
Article
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2037, doi. 10.1002/ajmg.a.62201
By:
- Rosenfeld, Jill A.;
- Xiao, Rui;
- Bekheirnia, Mir Reza;
- Kanani, Farah;
- Parker, Michael J.;
- Koenig, Mary K.;
- Haeringen, Arie;
- Ruivenkamp, Claudia;
- Rosmaninho‐Salgado, Joana;
- Almeida, Pedro M.;
- Sá, Joaquim;
- Pinto Basto, Jorge;
- Palen, Emily;
- Oetjens, Kathryn F.;
- Burrage, Lindsay C.;
- Xia, Fan;
- Liu, Pengfei;
- Eng, Christine M.;
- Yang, Yaping;
- Posey, Jennifer E.
Publication type:
Article
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2026, doi. 10.1002/ajmg.a.62199
By:
- Kido, Jun;
- Matsumoto, Shirou;
- Sugawara, Keishin;
- Sawada, Takaaki;
- Nakamura, Kimitoshi
Publication type:
Article
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2271, doi. 10.1002/ajmg.a.62198
By:
- Uludağ Alkaya, Dilek;
- Akpınar, Evren;
- Bilguvar, Kaya;
- Tüysüz, Beyhan
Publication type:
Article
Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2012, doi. 10.1002/ajmg.a.62197
By:
- Martinez, Kiana L.;
- Mauss, Corina;
- Andrews, Jennifer;
- Saboda, Kathylynn;
- Huynh, Julie M.;
- Sanoja, Alejandro J.;
- Jesudas, Rohith;
- Byers, Peter H.;
- Laukaitis, Christina M.
Publication type:
Article
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2003, doi. 10.1002/ajmg.a.62196
By:
- Onesimo, Roberta;
- Versacci, Paolo;
- Delogu, Angelica Bibiana;
- De Rosa, Gabriella;
- Pugnaloni, Flaminia;
- Blandino, Rita;
- Leoni, Chiara;
- Calcagni, Giulio;
- Digilio, Maria C.;
- Zollino, Marcella;
- Marino, Bruno;
- Zampino, Giuseppe
Publication type:
Article
Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1991, doi. 10.1002/ajmg.a.62195
By:
- Teruya, Katia Irie;
- Remor, Eduardo;
- Schwartz, Ida Vanessa Doederlein
Publication type:
Article
Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2136, doi. 10.1002/ajmg.a.62194
By:
- Hildebrandt, Clara C.;
- Patel, Nisha;
- Graham, John M.;
- Bamshad, Michael;
- Nickerson, Deborah A.;
- White, Janson J.;
- Marvin, Colby T.;
- Miller, Danny E.;
- Grand, Katheryn L.;
- Sanchez‐Lara, Pedro A.;
- Schweitzer, Daniela;
- Al‐Zaidan, Hamad I.;
- Al Masseri, Zainab;
- Alkuraya, Fowzan S.;
- Lin, Angela E.
Publication type:
Article
Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1981, doi. 10.1002/ajmg.a.62193
By:
- Latif, Muhammad A.;
- Sobreira, Nara Lygia D.;
- Guthrie, Kelsey S.;
- Motaghi, Mina;
- Robinson, Gina M.;
- Shafaat, Omid;
- Gong, Anna J.;
- Weiss, Clifford R.
Publication type:
Article
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
By:
- Duan, Ruizhi;
- Saadi, Nebal Waill;
- Grochowski, Christopher M.;
- Bhadila, Ghalia;
- Faridoun, Afnan;
- Mitani, Tadahiro;
- Du, Haowei;
- Fatih, Jawid M.;
- Jhangiani, Shalini N.;
- Akdemir, Zeynep C.;
- Gibbs, Richard A.;
- Pehlivan, Davut;
- Posey, Jennifer E.;
- Marafi, Dana;
- Lupski, James R.
Publication type:
Article
MASP1‐related 3MC syndrome in a patient from Turkey.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2267, doi. 10.1002/ajmg.a.62191
By:
- Durmaz, Ceren Damla;
- Altıner, Şule
Publication type:
Article
Feingold syndrome type 2 in a patient from China.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2262, doi. 10.1002/ajmg.a.62190
By:
- Lei, Jie;
- Han, Luhao;
- Huang, Yanke;
- Long, Min;
- Zhao, Gang;
- Yan, Shida;
- Zhang, Jing
Publication type:
Article
A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2234, doi. 10.1002/ajmg.a.62189
By:
- Turkkahraman, Doga;
- Sakarya, Atiye Nil Palancı;
- Randa, Nadide Cemre
Publication type:
Article
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2131, doi. 10.1002/ajmg.a.62188
By:
- Alsaif, Hessa S.;
- Alshehri, Ali;
- Sulaiman, Raashda A.;
- Al‐Hindi, Hindi;
- Guzmán‐Vega, Francisco J.;
- Arold, Stefan T.;
- Alkuraya, Fowzan S.
Publication type:
Article
Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2250, doi. 10.1002/ajmg.a.62187
By:
- Cheng, Shirley S. W.;
- Luk, Ho‐Ming;
- Mok, Myth Tsz‐Shun;
- Leung, Sha‐Sha;
- Lo, Ivan F. M.
Publication type:
Article
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2126, doi. 10.1002/ajmg.a.62185
By:
- Chandrasekar, Indira;
- Tourney, Anne;
- Loo, Kamela;
- Carmichael, Jason;
- James, Kiely;
- Ellsworth, Katarzyna A.;
- Dimmock, David;
- Joseph, Maries
Publication type:
Article
Parental mosaicism in de novo neurodevelopmental diseases.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2119, doi. 10.1002/ajmg.a.62174
By:
- Shu, Li;
- Zhang, Qianjun;
- Tian, Qi;
- Yang, Sai;
- Peng, Xingwang;
- Mao, Xiao;
- Yang, Liming;
- Du, Juan;
- Wang, Hua
Publication type:
Article
Co‐occurring non‐omphalocele and non‐gastroschisis anomalies among cases with congenital omphalocele and gastroschisis.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1954, doi. 10.1002/ajmg.a.62112
By:
- Stoll, Claude;
- Alembik, Yves;
- Roth, Marie‐Paule
Publication type:
Article
Cover Image, Volume 185A, Number 7, July 2021.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. i, doi. 10.1002/ajmg.a.61684
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1951, doi. 10.1002/ajmg.a.61683
Publication type:
Article
Genomic Analysis Reveals Cancer–Like Mutagenesis in Placental Tissues.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1949, doi. 10.1002/ajmg.a.61682
Publication type:
Article
Wolfram Syndrome: Cracking the Code to Better Therapies.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1948, doi. 10.1002/ajmg.a.61681
Publication type:
Article
Publication schedule for 2021.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1947, doi. 10.1002/ajmg.a.61680
Publication type:
Article
Table of Contents, Volume 185A, Number 7, July 2021.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1941, doi. 10.1002/ajmg.a.61679
Publication type:
Article