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Year Number of Results
2003 1
2004 2
2005 2
2006 1
2007 1
2013 2
2014 1
2016 3
2017 6
2018 11
2019 8
2020 3
2021 5
2022 9
2023 6
2024 2

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55 results

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Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: bhambhani v. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
Safety and efficacy of hydrothermal duodenal mucosal resurfacing in patients with type 2 diabetes: the randomised, double-blind, sham-controlled, multicentre REVITA-2 feasibility trial.
Mingrone G, van Baar AC, Devière J, Hopkins D, Moura E, Cercato C, Rajagopalan H, Lopez-Talavera JC, White K, Bhambhani V, Costamagna G, Haidry R, Grecco E, Galvao Neto M, Aithal G, Repici A, Hayee B, Haji A, Morris AJ, Bisschops R, Chouhan MD, Sakai NS, Bhatt DL, Sanyal AJ, Bergman JJGHM; Investigators of the REVITA-2 Study. Mingrone G, et al. Among authors: bhambhani v. Gut. 2022 Feb;71(2):254-264. doi: 10.1136/gutjnl-2020-323608. Epub 2021 Feb 17. Gut. 2022. PMID: 33597157 Free PMC article. Clinical Trial.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study; Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network; Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators; Masuelli L, Conti V, Novarino G, Fassio A. Guerrini R, et al. Among authors: bhambhani v. Brain. 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. Brain. 2022. PMID: 35675510 Free PMC article.
Noonan syndrome.
Bhambhani V, Muenke M. Bhambhani V, et al. Am Fam Physician. 2014 Jan 1;89(1):37-43. Am Fam Physician. 2014. PMID: 24444506 Free PMC article.
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Zarate YA, et al. Among authors: bhambhani v. Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31021519 Free article. Review.
Systemic Markers of Lung Function and Forced Expiratory Volume in 1 Second Decline across Diverse Cohorts.
Ngo D, Pratte KA, Flexeder C, Petersen H, Dang H, Ma Y, Keyes MJ, Gao Y, Deng S, Peterson BD, Farrell LA, Bhambhani VM, Palacios C, Quadir J, Gillenwater L, Xu H, Emson C, Gieger C, Suhre K, Graumann J, Jain D, Conomos MP, Tracy RP, Guo X, Liu Y, Johnson WC, Cornell E, Durda P, Taylor KD, Papanicolaou GJ, Rich SS, Rotter JI, Rennard SI, Curtis JL, Woodruff PG, Comellas AP, Silverman EK, Crapo JD, Larson MG, Vasan RS, Wang TJ, Correa A, Sims M, Wilson JG, Gerszten RE, O'Connor GT, Barr RG, Couper D, Dupuis J, Manichaikul A, O'Neal WK, Tesfaigzi Y, Schulz H, Bowler RP. Ngo D, et al. Among authors: bhambhani vm. Ann Am Thorac Soc. 2023 Aug;20(8):1124-1135. doi: 10.1513/AnnalsATS.202210-857OC. Ann Am Thorac Soc. 2023. PMID: 37351609
Regulation of RNA methylation by therapy treatment, promotes tumor survival.
Bukhari SI, Truesdell SS, Datta C, Choudhury P, Wu KQ, Shrestha J, Maharjan R, Plotsker E, Elased R, Laisa S, Bhambhani V, Lin Y, Kreuzer J, Morris R, Koh SB, Ellisen LW, Haas W, Ly A, Vasudevan S. Bukhari SI, et al. Among authors: bhambhani v. bioRxiv [Preprint]. 2023 May 20:2023.05.19.540602. doi: 10.1101/2023.05.19.540602. bioRxiv. 2023. PMID: 37292633 Free PMC article. Preprint.
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E; Undiagnosed Diseases Network; Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Morimoto M, et al. Among authors: bhambhani v. NPJ Genom Med. 2023 Feb 10;8(1):4. doi: 10.1038/s41525-022-00343-8. NPJ Genom Med. 2023. PMID: 36765070 Free PMC article.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Cousin MA, et al. Among authors: bhambhani v. Genome Med. 2022 Jun 13;14(1):62. doi: 10.1186/s13073-022-01064-4. Genome Med. 2022. PMID: 35698242 Free PMC article.
Durable metabolic improvements 2 years after duodenal mucosal resurfacing (DMR) in patients with type 2 diabetes (REVITA-1 Study).
van Baar ACG, Devière J, Hopkins D, Crenier L, Holleman F, Galvão Neto MP, Becerra P, Vignolo P, Rodriguez Grunert L, Mingrone G, Costamagna G, Nieuwdorp M, Guidone C, Haidry RJ, Hayee B, Magee C, Carlos Lopez-Talavera J, White K, Bhambhani V, Cozzi E, Rajagopalan H, J G H M Bergman J. van Baar ACG, et al. Among authors: bhambhani v. Diabetes Res Clin Pract. 2022 Feb;184:109194. doi: 10.1016/j.diabres.2022.109194. Epub 2022 Jan 13. Diabetes Res Clin Pract. 2022. PMID: 35032562 Free article. Clinical Trial.
55 results