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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

114 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L. Mazel B, et al. Among authors: mencarelli ma. Am J Med Genet B Neuropsychiatr Genet. 2024 Mar 8:e32970. doi: 10.1002/ajmg.b.32970. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38459409
FOXG1 is responsible for the congenital variant of Rett syndrome.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. Ariani F, et al. Among authors: mencarelli ma. Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571142 Free PMC article.
14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A. Mencarelli MA, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. doi: 10.1016/j.ejmg.2009.03.004. Epub 2009 Mar 19. Eur J Med Genet. 2009. PMID: 19303466
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Mencarelli MA, et al. J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2. J Med Genet. 2010. PMID: 19578037
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. Among authors: mencarelli ma. 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.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: mencarelli ma. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
Private inherited microdeletion/microduplications: implications in clinical practice.
Mencarelli MA, Katzaki E, Papa FT, Sampieri K, Caselli R, Uliana V, Pollazzon M, Canitano R, Mostardini R, Grosso S, Longo I, Ariani F, Meloni I, Hayek J, Balestri P, Mari F, Renieri A. Mencarelli MA, et al. Eur J Med Genet. 2008 Sep-Oct;51(5):409-16. doi: 10.1016/j.ejmg.2008.06.003. Epub 2008 Jul 9. Eur J Med Genet. 2008. PMID: 18657637
114 results