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Pediatric Nephrology

Volumn 25, Issue 11, 2010, Pages 2375-2376

Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations

(6) Seeman, Tomáš d Seemanová, Eva a Nuernberg, Gudrun b Nuernberg, Peter b Janssen, Sabine c Otto, Edgar A c

a UNIVERSITY HOSPITAL MOTOL (Czech Republic)

b UNIVERSITY OF COLOGNE (Germany)

c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL (United States)

d NONE

Author keywords

[No Author keywords available]

Indexed keywords

CAENORHABDITIS ELEGANS; CLINICAL ASSESSMENT; GENE LOCATION; GENE MUTATION; HUMAN; KIDNEY POLYCYSTIC DISEASE; LETTER; LIVER DISEASE; LIVER FIBROSIS; LIVER FUNCTION TEST; MENTAL DEFICIENCY; MISSENSE MUTATION; NEPHRONOPHTHISIS; PHENOTYPE; PRIORITY JOURNAL;

CASE-CONTROL STUDIES; CHILD, PRESCHOOL; DISEASES IN TWINS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LIVER DISEASES; MALE; MEMBRANE PROTEINS; MENTAL RETARDATION; MUTATION, MISSENSE; POLYCYSTIC KIDNEY DISEASES; TWINS, MONOZYGOTIC;

EID: 77957277774 PISSN: 0931041X EISSN: None Source Type: Journal
DOI: 10.1007/s00467-010-1591-1 Document Type: Letter

Times cited : (1)

References (4)

1
- 67349085159
- Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings
- 10.1007/s00467-008-1049-x 19011905
- T Seeman M Malíková K Bláhová E Seemanová 2009 Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings Pediatr Nephrol 24 1409 1412 10.1007/s00467-008-1049-x 19011905
- (2009) Pediatr Nephrol , vol.24 , pp. 1409-1412
- Seeman, T.¹ Malíková, M.² Bláhová, K.³ Seemanová, E.⁴

2
- 70349659803
- Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
- 1:CAS:528:DC%2BD1MXhtl2kurzI 10.1136/jmg.2009.066613 19508969
- EA Otto K Tory M Attanasio W Zhou M Chaki Y Paruchuri EL Wise MT Wolf B Utsch C Becker G Nürnberg P Nürnberg A Nayir S Saunier C Antignac F Hildebrandt 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) J Med Genet 46 663 670 1:CAS:528:DC%2BD1MXhtl2kurzI 10.1136/jmg.2009.066613 19508969
- (2009) J Med Genet , vol.46 , pp. 663-670
- Otto, E.A.¹ Tory, K.² Attanasio, M.³ Zhou, W.⁴ Chaki, M.⁵ Paruchuri, Y.⁶ Wise, E.L.⁷ Wolf, M.T.⁸ Utsch, B.⁹ Becker, C.¹⁰ Nürnberg, G.¹¹ Nürnberg, P.¹² Nayir, A.¹³ Saunier, S.¹⁴ Antignac, C.¹⁵ Hildebrandt, F.¹⁶

3
- 58149504281
- Nephronophthisis: Disease mechanisms of a ciliopathy
- 1:CAS:528:DC%2BD1MXhvV2ltbg%3D 10.1681/ASN.2008050456 19118152
- F Hildebrandt OE Attanasio 2009 Nephronophthisis: disease mechanisms of a ciliopathy J Am Soc Nephrol 20 23 35 1:CAS:528:DC%2BD1MXhvV2ltbg%3D 10.1681/ASN.2008050456 19118152
- (2009) J Am Soc Nephrol , vol.20 , pp. 23-35
- Hildebrandt, F.¹ Attanasio, O.E.²

4
- 0031698330
- Glomerulocystic disease with hepatoblastoma in a neonate: A case report
- DOI 10.1007/s002470050444
- ML Greer J Danin AC Lamont 1998 Glomerulocystic disease with hepatoblastoma in a neonate: a case report Pediatr Radiol 28 703 705 1:STN:280:DyaK1cvgsVaitw%3D%3D 10.1007/s002470050444 9732498 (Pubitemid 28427026)
- (1998) Pediatric Radiology , vol.28 , Issue.9 , pp. 703-705
- Greer, M.-L.C.¹ Danin, J.² Lamont, A.C.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.