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Pediatric Nephrology

Volumn 25, Issue 10, 2010, Pages 2193-2194

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

(6) Soliman, Neveen A a,b Hildebrandt, Friedhelm c,d Allen, Susan J c Otto, Edgar A c Nabhan, Marwa M a Badr, Ahmed M a

a CAIRO UNIVERSITY (Egypt)

b Egyptian Group for Orphan Renal Diseases EGORD (Egypt)

c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL (United States)

d HOWARD HUGHES MEDICAL INSTITUTE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EGYPT; FEMALE; GENE; GENE DELETION; GENETIC SCREENING; HOMOZYGOTE; HUMAN; LETTER; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NEPHRONOPHTHISIS; NPHP1 GENE; ONSET AGE; PRIORITY JOURNAL; SCHOOL CHILD;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; EGYPT; FEMALE; GENE DELETION; HOMOZYGOTE; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; MALE; MEMBRANE PROTEINS; POLYMERASE CHAIN REACTION;

EID: 77956228742 PISSN: 0931041X EISSN: None Source Type: Journal
DOI: 10.1007/s00467-010-1539-5 Document Type: Letter

Times cited : (5)

References (5)

1
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- Nephronophthisis: Disease mechanisms of a ciliopathy
- 10.1681/ASN.2008050456 1:CAS:528:DC%2BD1MXhvV2ltbg%3D 19118152
- F Hildebrandt M Attanasio E Otto 2009 Nephronophthisis: disease mechanisms of a ciliopathy J Am Soc Nephrol 20 23 35 10.1681/ASN.2008050456 1:CAS:528:DC%2BD1MXhvV2ltbg%3D 19118152
- (2009) J Am Soc Nephrol , vol.20 , pp. 23-35
- Hildebrandt, F.¹ Attanasio, M.² Otto, E.³

2
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- Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL i endonuclease cleavage, and direct sequencing
- 10.1002/humu.20669 1:CAS:528:DC%2BD1cXktlahtro%3D 18076122
- EA Otto J Helou SJ Allen JF O'Toole EL Wise S Ashraf M Attanasio W Zhou MT Wolf F Hildebrandt 2008 Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing Hum Mutat 29 418 426 10.1002/humu.20669 1:CAS:528: DC%2BD1cXktlahtro%3D 18076122
- (2008) Hum Mutat , vol.29 , pp. 418-426
- Otto, E.A.¹ Helou, J.² Allen, S.J.³ O'Toole, J.F.⁴ Wise, E.L.⁵ Ashraf, S.⁶ Attanasio, M.⁷ Zhou, W.⁸ Wolf, M.T.⁹ Hildebrandt, F.¹⁰

3
- 3042637388
- The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
- 10.1086/421846 1:CAS:528:DC%2BD2cXltFCls78%3D 15138899
- MA Parisi CL Bennett ML Eckert WB Dobyns JG Gleeson DW Shaw R McDonald A Eddy PF Chance 2004 The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome Am J Hum Genet 75 82 91 10.1086/421846 1:CAS:528:DC%2BD2cXltFCls78%3D 15138899
- (2004) Am J Hum Genet , vol.75 , pp. 82-91
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4
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- Nephronophthisis
- 10.1038/ejhg.2008.238 1:CAS:528:DC%2BD1MXjtlOnur8%3D 19066617
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5
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- Renal cysts of inv/inv mice resemble early infantile nephronophthisis
- 10.1097/01.ASN.0000131520.07008.B3 15213262
- CL Phillips KJ Miller AJ Filson J Nürnberger JL Clendenon GW Cook KW Dunn PA Overbeek VH Gattone RL Bacallao 2004 Renal cysts of inv/inv mice resemble early infantile nephronophthisis J Am Soc Nephrol 15 1744 1755 10.1097/01.ASN.0000131520.07008.B3 15213262
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.