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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1978 2
1982 6
1983 3
1984 6
1985 4
1986 4
1987 4
1988 4
1989 5
1990 7
1991 6
1992 4
1993 2
1994 7
1995 4
1996 5
1997 5
1998 3
1999 7
2000 2
2001 9
2002 6
2003 8
2004 13
2005 4
2006 6
2007 12
2008 14
2009 11
2010 12
2011 8
2012 13
2013 12
2014 16
2015 14
2016 11
2017 14
2018 19
2019 10
2020 14
2021 21
2022 20
2023 24
2024 10

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354 results

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Page 1
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. De Rubeis S, et al. Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. Nature. 2014. PMID: 25363760 Free PMC article.
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS. Shaheen R, et al. Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214071 Free PMC article.
Global multi-stakeholder endorsement of the MAFLD definition.
Méndez-Sánchez N, Bugianesi E, Gish RG, Lammert F, Tilg H, Nguyen MH, Sarin SK, Fabrellas N, Zelber-Sagi S, Fan JG, Shiha G, Targher G, Zheng MH, Chan WK, Vinker S, Kawaguchi T, Castera L, Yilmaz Y, Korenjak M, Spearman CW, Ungan M, Palmer M, El-Shabrawi M, Gruss HJ, Dufour JF, Dhawan A, Wedemeyer H, George J, Valenti L, Fouad Y, Romero-Gomez M, Eslam M; Global multi-stakeholder consensus on the redefinition of fatty liver disease. Méndez-Sánchez N, et al. Lancet Gastroenterol Hepatol. 2022 May;7(5):388-390. doi: 10.1016/S2468-1253(22)00062-0. Epub 2022 Mar 3. Lancet Gastroenterol Hepatol. 2022. PMID: 35248211 Free article. No abstract available.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Six candidate novel polymicrogyria genes were identified or confirmed: de novo missense variants in PANX1, QRICH1, and SCN2A and compound heterozygous variants in TMEM161B, KIF26A, and MAN2C1, each with consistent genotype-phenotype relationships in multiple families. CONCLUSIONS …
Six candidate novel polymicrogyria genes were identified or confirmed: de novo missense variants in PANX1, QRICH1, and SCN2A and compound he …
Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence.
Moody S, Senkin S, Islam SMA, Wang J, Nasrollahzadeh D, Cortez Cardoso Penha R, Fitzgerald S, Bergstrom EN, Atkins J, He Y, Khandekar A, Smith-Byrne K, Carreira C, Gaborieau V, Latimer C, Thomas E, Abnizova I, Bucciarelli PE, Jones D, Teague JW, Abedi-Ardekani B, Serra S, Scoazec JY, Saffar H, Azmoudeh-Ardalan F, Sotoudeh M, Nikmanesh A, Poustchi H, Niavarani A, Gharavi S, Eden M, Richman P, Campos LS, Fitzgerald RC, Ribeiro LF, Soares-Lima SC, Dzamalala C, Mmbaga BT, Shibata T, Menya D, Goldstein AM, Hu N, Malekzadeh R, Fazel A, McCormack V, McKay J, Perdomo S, Scelo G, Chanudet E, Humphreys L, Alexandrov LB, Brennan P, Stratton MR. Moody S, et al. Nat Genet. 2021 Nov;53(11):1553-1563. doi: 10.1038/s41588-021-00928-6. Epub 2021 Oct 18. Nat Genet. 2021. PMID: 34663923
Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence that is not fully explained by known lifestyle and environmental risk factors. It has been speculated that an unknown exogenous exposure(s) could be responsible. Here we combine the fields of …
Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence that is not fully explained by known lifestyle and environ …
Lunate resection and vascularized Os pisiform transfer in Kienbock's Disease: an average of 10 years of follow-up study after Saffar's procedure.
Daecke W, Lorenz S, Wieloch P, Jung M, Martini AK. Daecke W, et al. J Hand Surg Am. 2005 Jul;30(4):677-84. doi: 10.1016/j.jhsa.2005.02.015. J Hand Surg Am. 2005. PMID: 16039357
PURPOSE: To investigate the long-term results of lunate replacement by vascularized bone transfer in advanced Kienbock's disease. METHODS: Twenty-one patients were reviewed (mean follow-up period +/- SD, 9.9 +/- 3.5 y) to analyze results after lunate replacement by vascula …
PURPOSE: To investigate the long-term results of lunate replacement by vascularized bone transfer in advanced Kienbock's disease. MET …
Treatment of Madelung's deformity.
Saffar P, Badina A. Saffar P, et al. Chir Main. 2015 Dec;34(6):279-85. doi: 10.1016/j.main.2015.10.001. Epub 2015 Oct 30. Chir Main. 2015. PMID: 26525609
Treatment of Madelung's deformity is still controversial. We reviewed retrospectively 19 patients with Madelung's deformity (two bilateral, 21 cases) who underwent surgery to the radius and ulna to improve range of motion, decrease pain and improve appearance of the …
Treatment of Madelung's deformity is still controversial. We reviewed retrospectively 19 patients with Madelung's deformity (t …
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. van der Ven AT, et al. J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24. J Am Soc Nephrol. 2018. PMID: 30143558 Free PMC article.
RESULTS: In 29 families (13%), we detected a causative mutation in a known gene for isolated or syndromic CAKUT that sufficiently explained the patient's CAKUT phenotype. In three families (1%), we detected a mutation in a gene reported to cause a phenocopy of CAKUT. ...
RESULTS: In 29 families (13%), we detected a causative mutation in a known gene for isolated or syndromic CAKUT that sufficiently explained …
Bone-ligament-bone Cuenod grafting technique modified by Saffar-Romano for the treatment of chronic scapho-lunate dissociation.
Marcuzzi A, Leigheb M. Marcuzzi A, et al. Acta Biomed. 2016 Apr 15;87 Suppl 1:95-100. Acta Biomed. 2016. PMID: 27104327
BACKGROUND AND AIM OF THE WORK: The authors show their experience about six patients suffering of chronic scapho-lunate (S-L) dissociation treated with the Cuenod method modified by Saffar-Romano. ...All the patients returned to their previous job after a mean time …
BACKGROUND AND AIM OF THE WORK: The authors show their experience about six patients suffering of chronic scapho-lunate (S-L) dissoci …
354 results