Caridi G - Search Results

1

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network; Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center; John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. Weng PL, et al. Among authors: caridi g. Am J Hum Genet. 2021 Feb 4;108(2):357-367. doi: 10.1016/j.ajhg.2021.01.008. Epub 2021 Jan 27. Am J Hum Genet. 2021. PMID: 33508234 Free PMC article.

2

Mapping of the human COL5A1 gene to chromosome 9q34.3.

Caridi G, Pezzolo A, Bertelli R, Gimelli G, Di Donato A, Candiano G, Ghiggeri GM. Caridi G, et al. Hum Genet. 1992 Sep-Oct;90(1-2):174-6. doi: 10.1007/BF00210769. Hum Genet. 1992. PMID: 1427773

3

A new biallelic DNA polymorphism of the human COL5A1 gene.

Cappa F, Caridi G, Gimelli G, Ghiggeri GM. Cappa F, et al. Among authors: caridi g. Hum Genet. 1995 May;95(5):599-600. doi: 10.1007/BF00223882. Hum Genet. 1995. PMID: 7759090

4

Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

Ghiggeri GM, Caridi G, Altieri P, Pezzolo A, Gimelli G, Zuffardi O. Ghiggeri GM, et al. Among authors: caridi g. Hum Genet. 1993 Mar;91(2):175-7. doi: 10.1007/BF00222720. Hum Genet. 1993. PMID: 8462976

5

Nephronophthisis-medullary cystic disease: clinical and genetic aspects.

Gusmano R, Ghiggeri GM, Caridi G. Gusmano R, et al. Among authors: caridi g. J Nephrol. 1998 Sep-Oct;11(5):224-8. J Nephrol. 1998. PMID: 9831234 Review.

6

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.

Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM. Caridi G, et al. Am J Kidney Dis. 1998 Dec;32(6):1059-62. doi: 10.1016/s0272-6386(98)70083-6. Am J Kidney Dis. 1998. PMID: 9856524 Review.

7

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G. Scolari F, et al. Among authors: caridi g. Am J Hum Genet. 1999 Jun;64(6):1655-60. doi: 10.1086/302414. Am J Hum Genet. 1999. PMID: 10330352 Free PMC article.

8

N-(4-hydroxyphenyl) retinamide inhibits cystogenesis by polycystic epithelial cell lines in vitro.

Altieri P, Caridi G, Chiesa V, Ponzoni M, Ghiggeri GM. Altieri P, et al. Among authors: caridi g. Life Sci. 1999;64(22):PL259-65. doi: 10.1016/s0024-3205(99)00155-1. Life Sci. 1999. PMID: 10374933

9

A DNA element in the alpha1 type III collagen promoter mediates a stimulatory response by angiotensin II.

Ghiggeri GM, Oleggini R, Musante L, Caridi G, Gusmano R, Ravazzolo R. Ghiggeri GM, et al. Among authors: caridi g. Kidney Int. 2000 Aug;58(2):537-48. doi: 10.1046/j.1523-1755.2000.00200.x. Kidney Int. 2000. PMID: 10916077 Free article.

10

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.

Gharavi AG, Yan Y, Scolari F, Schena FP, Frasca GM, Ghiggeri GM, Cooper K, Amoroso A, Viola BF, Battini G, Caridi G, Canova C, Farhi A, Subramanian V, Nelson-Williams C, Woodford S, Julian BA, Wyatt RJ, Lifton RP. Gharavi AG, et al. Among authors: caridi g. Nat Genet. 2000 Nov;26(3):354-7. doi: 10.1038/81677. Nat Genet. 2000. PMID: 11062479

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