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2. Cerebro-reno-digital syndrome in two sibs. Piantanida M; Tiberti A; Plebani A; Martelli P; Danesino C Am J Med Genet; 1993 Sep; 47(3):420-2. PubMed ID: 8135292 [TBL] [Abstract][Full Text] [Related]
3. Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. Kaplan BS; Gordon I; Pincott J; Barratt TM Am J Med Genet; 1989 Dec; 34(4):569-73. PubMed ID: 2624270 [TBL] [Abstract][Full Text] [Related]
4. Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins. Ashton-Prolla P; Félix TM Am J Med Genet; 1997 Jun; 70(4):353-6. PubMed ID: 9182773 [TBL] [Abstract][Full Text] [Related]
5. Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease). Antignac C; Kleinknecht C; Habib R Adv Nephrol Necker Hosp; 1995; 24():379-93. PubMed ID: 7572421 [No Abstract] [Full Text] [Related]
6. [Familial incidence of renal malformations]. Chmielewski J; Janusz L; Stasikiewicz-Chmielewska ; Gazdowska-Nawrocka D Wiad Lek; 1971 Nov; 24(22):2087-90. PubMed ID: 5139140 [No Abstract] [Full Text] [Related]
7. Further arguments for non-fortuitous association of Potter sequence with XYY males. Rudnik-Schöneborn S; Schüler HM; Schwanitz G; Hansmann M; Zerres K Ann Genet; 1996; 39(1):43-6. PubMed ID: 9297443 [TBL] [Abstract][Full Text] [Related]
8. Familial brachydactyly and chondrocalcinosis. Report of a patient, pedigree and review of the literature. Mathews JL; Samuelson CO; Manis S J Rheumatol; 1983 Oct; 10(5):819-22. PubMed ID: 6644710 [TBL] [Abstract][Full Text] [Related]
13. Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly". Fraser FC; Lytwyn A Am J Med Genet; 1981; 9(1):67-73. PubMed ID: 7246621 [TBL] [Abstract][Full Text] [Related]
14. X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. Genuardi M; Chiurazzi P; Capelli A; Neri G Birth Defects Orig Artic Ser; 1993; 29(1):235-41. PubMed ID: 8280876 [No Abstract] [Full Text] [Related]
15. [The HLA system and the adult type of cystic kidney]. Mayr WR; Maier U Z Urol Nephrol; 1983; 76(2):75-8. PubMed ID: 6858413 [No Abstract] [Full Text] [Related]
16. Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. Mistry K; Ireland JH; Ng RC; Henderson JM; Pollak MR Am J Kidney Dis; 2007 Nov; 50(5):855-64. PubMed ID: 17954299 [TBL] [Abstract][Full Text] [Related]
18. Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems. Kulharya AS; Michaelis RC; Norris KS; Taylor HA; Garcia-Heras J Am J Med Genet; 1998 Jun; 77(5):391-4. PubMed ID: 9632168 [TBL] [Abstract][Full Text] [Related]
19. Familial patent ductus arteriosus: a further case of CHAR syndrome. Slavotinek A; Clayton-Smith J; Super M Am J Med Genet; 1997 Aug; 71(2):229-32. PubMed ID: 9217229 [TBL] [Abstract][Full Text] [Related]
20. Nephronophthisis-medullary cystic kidney disease complex: a report on 24 patients from 5 families with Italian ancestry. Scolari F; Valzorio B; Vizzardi V; Carli O; Costantino E; Viola F; Prati E; Maiorca R Contrib Nephrol; 1997; 122():61-3. PubMed ID: 9399041 [No Abstract] [Full Text] [Related] [Next] [New Search]