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Page 1
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T. Mackay D, et al. Among authors: maher er. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. Clin Epigenetics. 2022. PMID: 36345041 Free PMC article.
Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants.
Taïeb D, Wanna GB, Ahmad M, Lussey-Lepoutre C, Perrier ND, Nölting S, Amar L, Timmers HJLM, Schwam ZG, Estrera AL, Lim M, Pollom EL, Vitzthum L, Bourdeau I, Casey RT, Castinetti F, Clifton-Bligh R, Corssmit EPM, de Krijger RR, Del Rivero J, Eisenhofer G, Ghayee HK, Gimenez-Roqueplo AP, Grossman A, Imperiale A, Jansen JC, Jha A, Kerstens MN, Kunst HPM, Liu JK, Maher ER, Marchioni D, Mercado-Asis LB, Mete O, Naruse M, Nilubol N, Pandit-Taskar N, Sebag F, Tanabe A, Widimsky J, Meuter L, Lenders JWM, Pacak K. Taïeb D, et al. Among authors: maher er. Lancet Diabetes Endocrinol. 2023 May;11(5):345-361. doi: 10.1016/S2213-8587(23)00038-4. Epub 2023 Mar 31. Lancet Diabetes Endocrinol. 2023. PMID: 37011647 Free PMC article. Review.
Author Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.
Casey RT, Hendriks E, Deal C, Waguespack SG, Wiegering V, Redlich A, Akker S, Prasad R, Fassnacht M, Clifton-Bligh R, Amar L, Bornstein S, Canu L, Charmandari E, Chrisoulidou A, Freixes MC, de Krijger R, de Sanctis L, Fojo A, Ghia AJ, Huebner A, Kosmoliaptsis V, Kuhlen M, Raffaelli M, Lussey-Lepoutre C, Marks SD, Nilubol N, Parasiliti-Caprino M, Timmers HHJLM, Zietlow AL, Robledo M, Gimenez-Roqueplo AP, Grossman AB, Taïeb D, Maher ER, Lenders JWM, Eisenhofer G, Jimenez C, Pacak K, Pamporaki C. Casey RT, et al. Among authors: maher er. Nat Rev Endocrinol. 2024 Dec;20(12):760. doi: 10.1038/s41574-024-01034-3. Nat Rev Endocrinol. 2024. PMID: 39191988 No abstract available.
International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.
Casey RT, Hendriks E, Deal C, Waguespack SG, Wiegering V, Redlich A, Akker S, Prasad R, Fassnacht M, Clifton-Bligh R, Amar L, Bornstein S, Canu L, Charmandari E, Chrisoulidou A, Freixes MC, de Krijger R, de Sanctis L, Fojo A, Ghia AJ, Huebner A, Kosmoliaptsis V, Kuhlen M, Raffaelli M, Lussey-Lepoutre C, Marks SD, Nilubol N, Parasiliti-Caprino M, Timmers HHJLM, Zietlow AL, Robledo M, Gimenez-Roqueplo AP, Grossman AB, Taïeb D, Maher ER, Lenders JWM, Eisenhofer G, Jimenez C, Pacak K, Pamporaki C. Casey RT, et al. Among authors: maher er. Nat Rev Endocrinol. 2024 Dec;20(12):729-748. doi: 10.1038/s41574-024-01024-5. Epub 2024 Aug 15. Nat Rev Endocrinol. 2024. PMID: 39147856 Review.
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Mackay DJG, Gazdagh G, Monk D, Brioude F, Giabicani E, Krzyzewska IM, Kalish JM, Maas SM, Kagami M, Beygo J, Kahre T, Tenorio-Castano J, Ambrozaitytė L, Burnytė B, Cerrato F, Davies JH, Ferrero GB, Fjodorova O, Manero-Azua A, Pereda A, Russo S, Tannorella P, Temple KI, Õunap K, Riccio A, de Nanclares GP, Maher ER, Lapunzina P, Netchine I, Eggermann T, Bliek J, Tümer Z. Mackay DJG, et al. Among authors: maher er. Clin Epigenetics. 2024 Aug 1;16(1):99. doi: 10.1186/s13148-024-01713-y. Clin Epigenetics. 2024. PMID: 39090763 Free PMC article. Review.
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.
Geilswijk M, Genuardi M, Woodward ER, Nightingale K, Huber J, Madsen MG, Liekelema-van der Heij D, Lisseman I, Marlé-Ballangé J, McCarthy C, Menko FH, Moorselaar RJAV, Radzikowska E, Richard S, Rajan N, Sommerlund M, Wetscherek MTA, Di Donato N, Maher ER, Brunet J. Geilswijk M, et al. Among authors: maher er. Eur J Hum Genet. 2024 Dec;32(12):1542-1550. doi: 10.1038/s41431-024-01671-2. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085584 Free PMC article. Review.
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort.
Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Masoud S, Annear N, Barratt J, Bingham C, Coward RJ, Chrysochou T, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Thomas K, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Sy KTL, Huang K, Ye J, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Wong K, et al. Among authors: maher er. Kidney Int Rep. 2024 May 9;9(7):2067-2083. doi: 10.1016/j.ekir.2024.04.062. eCollection 2024 Jul. Kidney Int Rep. 2024. PMID: 39081723 Free PMC article.
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.
Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Annear N, Barratt J, Bingham C, Chrysochou C, Coward RJ, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Taylor CM, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Wong K, et al. Among authors: maher er. Lancet. 2024 Mar 30;403(10433):1279-1289. doi: 10.1016/S0140-6736(23)02843-X. Epub 2024 Mar 13. Lancet. 2024. PMID: 38492578 Free article.
568 results