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Page 1
Did you mean e gel[Author] (6 results)?
Noonan syndrome and clinically related disorders.
Tartaglia M, Gelb BD, Zenker M. Tartaglia M, et al. Among authors: gelb bd. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396583 Free PMC article. Review.
Enabling Technologies for Personalized and Precision Medicine.
Ho D, Quake SR, McCabe ERB, Chng WJ, Chow EK, Ding X, Gelb BD, Ginsburg GS, Hassenstab J, Ho CM, Mobley WC, Nolan GP, Rosen ST, Tan P, Yen Y, Zarrinpar A. Ho D, et al. Among authors: gelb bd. Trends Biotechnol. 2020 May;38(5):497-518. doi: 10.1016/j.tibtech.2019.12.021. Epub 2020 Jan 21. Trends Biotechnol. 2020. PMID: 31980301 Free PMC article. Review.
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD. Linglart L, et al. Among authors: gelb bd. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):73-80. doi: 10.1002/ajmg.c.31765. Epub 2020 Feb 5. Am J Med Genet C Semin Med Genet. 2020. PMID: 32022400 Free PMC article. Review.
Noonan syndrome is a pleomorphic genetic disorder, in which a high percentage of affected individuals have cardiovascular involvement, most prevalently various forms of congenital heart disease (i.e., pulmonary valve stenosis, septal defects, left-sided lesions, and comple …
Noonan syndrome is a pleomorphic genetic disorder, in which a high percentage of affected individuals have cardiovascular involvement, most …
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
Tartaglia M, Aoki Y, Gelb BD. Tartaglia M, et al. Among authors: gelb bd. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):425-439. doi: 10.1002/ajmg.c.32012. Epub 2022 Nov 16. Am J Med Genet C Semin Med Genet. 2022. PMID: 36394128 Free PMC article. Review.
Here, we provide an overview on the discoveries collected during the last 5 years that have delivered unexpected insights (e.g., Noonan syndrome as a recessive disease) and allowed to profile new RASopathies, novel disease genes and new molecular circuits contributing to t …
Here, we provide an overview on the discoveries collected during the last 5 years that have delivered unexpected insights (e.g., Noon …
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: gelb bd. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Notably, coarse facies and distal skeletal anomalies, as defined by OMIM, are rare in this expanded cohort while other features are unexpectedly common (e.g., hypotonia, psychosis, etc.). Using 3D protein structure analysis and an innovative dual Drosophila gain-of-functio …
Notably, coarse facies and distal skeletal anomalies, as defined by OMIM, are rare in this expanded cohort while other features are unexpect …
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
Cohen JL, Chakraborty P, Fung-Kee-Fung K, Schwab ME, Bali D, Young SP, Gelb MH, Khaledi H, DiBattista A, Smallshaw S, Moretti F, Wong D, Lacroix C, El Demellawy D, Strickland KC, Lougheed J, Moon-Grady A, Lianoglou BR, Harmatz P, Kishnani PS, MacKenzie TC. Cohen JL, et al. Among authors: gelb mh. N Engl J Med. 2022 Dec 8;387(23):2150-2158. doi: 10.1056/NEJMoa2200587. Epub 2022 Nov 9. N Engl J Med. 2022. PMID: 36351280 Free PMC article.
Synthesis and Application of Trehalose Materials.
Vinciguerra D, Gelb MB, Maynard HD. Vinciguerra D, et al. Among authors: gelb mb. JACS Au. 2022 Jul 6;2(7):1561-1587. doi: 10.1021/jacsau.2c00309. eCollection 2022 Jul 25. JACS Au. 2022. PMID: 35911465 Free PMC article. Review.
HRAS-Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia.
Rodríguez NA, Patel N, Dariolli R, Ng S, Aleman AG, Gong JQX, Lin HM, Rodríguez M, Josowitz R, Sol-Church K, Gripp KW, Lin X, Song SC, Fishman GI, Sobie EA, Gelb BD. Rodríguez NA, et al. Among authors: gelb bd. Circ Arrhythm Electrophysiol. 2024 Apr;17(4):e012022. doi: 10.1161/CIRCEP.123.012022. Epub 2024 Feb 28. Circ Arrhythm Electrophysiol. 2024. PMID: 38415356
179 results