Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

750 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium, Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999
DNA METHYLATION AS A KEY EPIGENETICS PLAYER FOR HEPATOBLASTOMA CHARACTERIZATION.
Rivas M, Aguiar T, Fernandes G, Lemes R, Caires-Júnior L, Goulart E, Telles-Silva K, Maschietto M, Cypriano M, de Toledo S, Carraro D, Cunha ID, Costa CD, Rosenberg C, Krepischi A. Rivas M, et al. Among authors: rosenberg c. Clin Res Hepatol Gastroenterol. 2021 Apr 11:101684. doi: 10.1016/j.clinre.2021.101684. Online ahead of print. Clin Res Hepatol Gastroenterol. 2021. PMID: 33852955
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Chen N, et al. Among authors: rosenberg c. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. Am J Hum Genet. 2021. PMID: 33434492
Psychometric validation of a patient-reported outcome questionnaire (Qualipsosex) assessing the impact of psoriasis and psoriatic arthritis on patient perception of sexuality.
Lespessailles E, Mahé E, Reguiai Z, Begon E, Maccari F, Beneton N, Chaby G, Rosenberg C, Dernis E, Roux F, Henry-Desailly I, Charles B, Ferdynus C, Marty M, Esteve E. Lespessailles E, et al. Among authors: rosenberg c. Medicine (Baltimore). 2021 Jan 8;100(1):e24168. doi: 10.1097/MD.0000000000024168. Medicine (Baltimore). 2021. PMID: 33429800 Free PMC article.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC. Canton APM, et al. Among authors: rosenberg c. Hum Reprod. 2021 Jan 25;36(2):506-518. doi: 10.1093/humrep/deaa306. Hum Reprod. 2021. PMID: 33313884
Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation.
Rivas MP, Aguiar TFM, Maschietto M, Lemes RB, Caires-Júnior LC, Goulart E, Telles-Silva KA, Novak E, Cristofani LM, Odone V, Cypriano M, de Toledo SRC, Carraro DM, Escobar MQ, Lee H, Johnston M, da Costa CML, da Cunha IW, Tasic L, Pearson PL, Rosenberg C, Timchenko N, Krepischi ACV. Rivas MP, et al. Among authors: rosenberg c. Tumour Biol. 2020 Dec;42(12):1010428320977124. doi: 10.1177/1010428320977124. Tumour Biol. 2020. PMID: 33256542 Free article.
750 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page