Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1982 1
1990 1
1991 1
1992 2
1993 1
1994 4
1995 2
1996 3
1997 1
1998 1
1999 1
2000 1
2001 2
2002 2
2003 2
2004 2
2005 3
2006 3
2007 3
2008 1
2009 3
2010 3
2011 2
2012 3
2013 3
2014 2
2015 2
2016 5
2017 2
2018 1
2019 2
2020 2
2021 1
2022 1
2023 1
2024 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

67 results

Results by year

Filters applied: . Clear all
Page 1
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: bitoun p. J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. J Med Genet. 2024. PMID: 38471765 Free PMC article. Review.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Among authors: bitoun p. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Molecular biomarkers in glaucoma.
Bhattacharya SK, Lee RK, Grus FH; Seventh ARVO/Pfizer Ophthalmics Research Institute Conference Working Group. Bhattacharya SK, et al. Invest Ophthalmol Vis Sci. 2013 Jan 7;54(1):121-31. doi: 10.1167/iovs.12-11067. Invest Ophthalmol Vis Sci. 2013. PMID: 23297392 Free PMC article. No abstract available.
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Schneider A, Littlejohn RO, Douzgou S, Tremblay A, Michaud JL. Srour M, et al. Among authors: bitoun p. Hum Mutat. 2016 Aug;37(8):786-93. doi: 10.1002/humu.23004. Epub 2016 May 9. Hum Mutat. 2016. PMID: 27120018
Identification of CANT1 mutations in Desbuquois dysplasia.
Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Bréchot P, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: bitoun p. Am J Hum Genet. 2009 Nov;85(5):706-10. doi: 10.1016/j.ajhg.2009.10.001. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853239 Free PMC article.
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hall HN, Parry D, Halachev M, Williamson KA, Donnelly K, Campos Parada J, Bhatia S, Joseph J, Holden S, Prescott TE, Bitoun P, Kirk EP, Newbury-Ecob R, Lachlan K, Bernar J, van Heyningen V, FitzPatrick DR, Meynert A. Hall HN, et al. Among authors: bitoun p. J Med Genet. 2024 Feb 21;61(3):250-261. doi: 10.1136/jmg-2023-109181. J Med Genet. 2024. PMID: 38050128 Free PMC article.
The supplementary motor area modulates interhemispheric interactions during movement preparation.
Welniarz Q, Gallea C, Lamy JC, Méneret A, Popa T, Valabregue R, Béranger B, Brochard V, Flamand-Roze C, Trouillard O, Bonnet C, Brüggemann N, Bitoun P, Degos B, Hubsch C, Hainque E, Golmard JL, Vidailhet M, Lehéricy S, Dusart I, Meunier S, Roze E. Welniarz Q, et al. Among authors: bitoun p. Hum Brain Mapp. 2019 May;40(7):2125-2142. doi: 10.1002/hbm.24512. Epub 2019 Jan 17. Hum Brain Mapp. 2019. PMID: 30653778 Free PMC article.
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. Among authors: bitoun p. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.
67 results