scholarly journals Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

2000 ◽  
Vol 66 (3) ◽  
pp. 778-789 ◽  
Author(s):  
Sophie Saunier ◽  
Joaquim Calado ◽  
France Benessy ◽  
Flora Silbermann ◽  
Roland Heilig ◽  
...  
Keyword(s):  
Familial Juvenile Nephronophthisis ◽  
Juvenile Nephronophthisis

Familial Uremic Medullary Cystic Disease or Nephronophthisis?

PEDIATRICS ◽  
1971 ◽  
Vol 47 (2) ◽  
pp. 477-477
Author(s):  
R. N. Srivastava
Keyword(s):  
Age Of Onset ◽  
Renal Medulla ◽  
Familial Occurrence ◽  
Cystic Disease ◽  
Medullary Cystic Disease ◽  
Familial Juvenile Nephronophthisis ◽  
Cystic Changes ◽  
Juvenile Nephronophthisis

Drs. Alexander and Campbell (Pediatrics, 45: 1024) rightly mention the similarity between Medullary Cystic disease and familial juvenile nephronophthisis. It is now clear that the separation of these disorders on the basis of familial occurrence, age of onset, and presence of medullary cysts is not possible. I, however, disagree with these authors' recommendation to refer to these conditions as "Familial Uremic Medullary Cystic disease." The disorder is not always familial and the cystic changes are not confined to renal medulla.

Mechanism underlying early anaemia in children with familial juvenile nephronophthisis

1996 ◽  
Vol 10 (5) ◽  
pp. 578-581 ◽  
Author(s):  
Sirpa Ala-Mello ◽  
Sanna M. Kivivuori ◽  
Kai A. R. Rönnholm ◽  
Olli Koskimies ◽  
Martti A. Siimes
Keyword(s):  
Familial Juvenile Nephronophthisis ◽  
Juvenile Nephronophthisis

Familial Juvenile Nephronophthisis

1986 ◽  
Vol 25 (2) ◽  
pp. 90-95 ◽  
Author(s):  
Arnaldo Cantani ◽  
Gabriele Bamonte ◽  
Daniel Ceccoli ◽  
Gianni Biribicchi ◽  
Francesco Farinella
Keyword(s):  
Familial Juvenile Nephronophthisis ◽  
Juvenile Nephronophthisis

Familial Juvenile Nephronophthisis

1962 ◽  
Vol 51 (5) ◽  
pp. 561-574 ◽  
Author(s):  
GERT VON SYDOW ◽  
STIG RANSTRÖM
Keyword(s):  
Familial Juvenile Nephronophthisis ◽  
Juvenile Nephronophthisis

Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers

Genomics ◽  
1995 ◽  
Vol 25 (2) ◽  
pp. 360-364 ◽  
Author(s):  
F Hildebrandt ◽  
I Singh-Sawhney ◽  
B Schnieders ◽  
T Papenfuss ◽  
M Brandis
Keyword(s):  
Genetic Mapping ◽  
Physical Mapping ◽  
Familial Juvenile Nephronophthisis ◽  
Juvenile Nephronophthisis

Leber's Congenital Amaurosis Associated with Familial Juvenile Nephronophthisis and Cone-Shaped Epiphyses of the Hands (the Saldino-Mainzer Syndrome)

1984 ◽  
Vol 97 (2) ◽  
pp. 233-239 ◽  
Author(s):  
Don S. Ellis ◽  
John R. Heckenlively ◽  
Christina L. Martin ◽  
Ralph S. Lachman ◽  
Nadia A. Sakati ◽  
...  
Keyword(s):  
Familial Juvenile Nephronophthisis ◽  
Juvenile Nephronophthisis ◽  
Leber’S Congenital Amaurosis

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

1985 ◽  
Vol 60 (5) ◽  
pp. 426-434 ◽  
Author(s):  
M D Donaldson ◽  
A A Warner ◽  
R S Trompeter ◽  
G B Haycock ◽  
C Chantler
Keyword(s):  
Familial Juvenile Nephronophthisis ◽  
Juvenile Nephronophthisis

Severe tubular resistance to aldosterone in a child with familial juvenile nephronophthisis

1992 ◽  
Vol 6 (1) ◽  
pp. 57-59 ◽  
Author(s):  
Bella Eisenstein ◽  
Miriam Davidovitz ◽  
Ben Zion Garty ◽  
Dan Shmueli ◽  
Alexander Ussim ◽  
...  
Keyword(s):  
Familial Juvenile Nephronophthisis ◽  
Juvenile Nephronophthisis
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