Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

× No keyword cloud information.

37 in total

1. Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

Authors: M P Clarke; T J Sullivan; C Francis; R Baumal; T Fenton; W G Pearce
Journal: Br J Ophthalmol Date: 1992-03 Impact factor: 4.638

2. Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.

Authors: M Popović-Rolović; N Calić-Perisíc; G Bunjevacki; D Negovanović
Journal: Arch Dis Child Date: 1976-10 Impact factor: 3.791

3. Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

Authors: D G Robins; T A French; T M Chakera
Journal: Arch Dis Child Date: 1976-10 Impact factor: 3.791

4. Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

Authors: H Omran; C Fernandez; M Jung; K Häffner; B Fargier; A Villaquiran; R Waldherr; N Gretz; M Brandis; F Rüschendorf; A Reis; F Hildebrandt
Journal: Am J Hum Genet Date: 2000-01 Impact factor: 11.025

5. A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Authors: S Dharmaraj; Y Li; J M Robitaille; E Silva; D Zhu; T N Mitchell; L P Maltby; A B Baffoe-Bonnie; I H Maumenee
Journal: Am J Hum Genet Date: 2000-01 Impact factor: 11.025

Review 6. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors: J Spranger
Journal: Eur J Pediatr Date: 1992-06 Impact factor: 3.183

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

1. Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

2. Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.

3. Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

4. Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

5. A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Review 6. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Review 7. Clinical and molecular features of Joubert syndrome and related disorders.

8. Nephronophthisis.

9. Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.

10. Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.