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

110 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: cappuccio g. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Ishiguro A, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: cappuccio g. J Clin Immunol. 2023 Nov;43(8):2126. doi: 10.1007/s10875-023-01600-w. J Clin Immunol. 2023. PMID: 37921915 No abstract available.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: cappuccio g. J Clin Immunol. 2023 Nov;43(8):2115-2125. doi: 10.1007/s10875-023-01584-7. Epub 2023 Sep 28. J Clin Immunol. 2023. PMID: 37770806
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: cappuccio g. medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741. medRxiv. 2023. PMID: 37873138 Free PMC article. Preprint.
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Melis D, et al. Among authors: cappuccio g. Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671372
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.
Cappuccio G, De Crescenzo A, Ciancia G, Canta L, Moio M, Mataro I, Varone V, Pettinato G, Palumbo O, Carella M, Riccio A, Brunetti-Pierri N. Cappuccio G, et al. Am J Med Genet A. 2014 Jan;164A(1):182-5. doi: 10.1002/ajmg.a.36191. Epub 2013 Nov 8. Am J Med Genet A. 2014. PMID: 24214456
110 results