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Year Number of Results
1984 1
1985 1
1986 1
1987 1
1990 1
1991 1
1992 1
1993 4
1994 2
1995 6
1996 4
1997 2
1999 2
2000 1
2001 2
2003 4
2004 2
2005 3
2006 4
2007 3
2008 7
2009 5
2010 4
2011 7
2012 2
2013 3
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2024 3

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84 results

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Page 1
Poikiloderma with Neutropenia.
Wang L, Clericuzio C, Larizza L, Concolino D. Wang L, et al. Among authors: clericuzio c. 2017 Oct 26 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 Oct 26 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29072891 Free Books & Documents. Review.
Loss of GABARAP mediates resistance to immunogenic chemotherapy in multiple myeloma.
Gulla A, Morelli E, Johnstone M, Turi M, Samur MK, Botta C, Cifric S, Folino P, Vinaixa D, Barello F, Clericuzio C, Favasuli VK, Maisano D, Talluri S, Prabhala R, Bianchi G, Fulciniti M, Wen K, Kurata K, Liu J, Penailillo J, Bragoni A, Sapino A, Richardson PG, Chauhan D, Carrasco RD, Hideshima T, Munshi NC, Anderson KC. Gulla A, et al. Among authors: clericuzio c. Blood. 2024 Jun 20;143(25):2612-2626. doi: 10.1182/blood.2023022777. Blood. 2024. PMID: 38551812
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics; Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Dyment DA, et al. Among authors: clericuzio cl. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098347 Free PMC article.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. Choufani S, et al. Among authors: clericuzio c. Am J Hum Genet. 2020 May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2. Am J Hum Genet. 2020. PMID: 32243864 Free PMC article.
Diagnosing xeroderma pigmentosum group C by immunohistochemistry.
de Feraudy S, Boubakour-Azzouz I, Fraitag S, Berneburg M, Chan L, Chew K, Clericuzio CL, Cunningham B, Tope WD, Cleaver JE. de Feraudy S, et al. Among authors: clericuzio cl. Am J Dermatopathol. 2010 Apr;32(2):109-17. doi: 10.1097/DAD.0b013e3181af0a5e. Am J Dermatopathol. 2010. PMID: 19915453
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Among authors: clericuzio c. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
84 results