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Quoted phrase not found in phrase index: "Senior-Loken syndrome 9"
Page 1
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Loken syndrome.
Nephrology (Carlton). 2013 Dec;18(12):838-42. doi: 10.1111/nep.12156.
Nephrology (Carlton). 2013.
PMID: 24674142
Senior-Loken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Loken syndrome. NPHP5 mutations are known to cause …
Senior-Loken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently …
The nephronophthisis complex: clinical and genetic aspects.
Hildebrandt F, Waldherr R, Kutt R, Brandis M.
Hildebrandt F, et al.
Clin Investig. 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751.
Clin Investig. 1992.
PMID: 1450635
Review.
An association of NPH with retinitis pigmentosa is known as the Senior-Loken syndrome (SLS). Hepatic fibrosis, skeletal defects, and central nervous system abnormalities have been described in association with NPH but are typically absent in MCD. ...
An association of NPH with retinitis pigmentosa is known as the Senior-Loken syndrome (SLS). Hepatic fibrosis, skeletal …
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Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.
Quaglia M, Musetti C, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P.
Quaglia M, et al.
Clin Transplant. 2014 Sep;28(9):995-1003. doi: 10.1111/ctr.12408. Epub 2014 Jul 18.
Clin Transplant. 2014.
PMID: 24961278
RESULTS: In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8-dihydroxyadeninuria (2,8-DHA) disease (n = 2), HNF-1B-associated ne …
RESULTS: In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence o …
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Acute liver failure secondary to opportunistic viral infection in adult solid organ transplant recipients.
Claridge LC, Dobson C, Kanji H, Neil D, Timms JM, Holt AP.
Claridge LC, et al.
QJM. 2012 Sep;105(9):879-82. doi: 10.1093/qjmed/hcr117. Epub 2011 Jul 19.
QJM. 2012.
PMID: 21771853
No abstract available.
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