A complex phenotype with cystic renal disease

被引：18

作者：

Mueller, D.

Klopocki, E.

Neumann, L. M.

Mundlos, S.

Taupitz, M.

Schulze, I.

Ropers, H-H

Querfeld, U.

Ullmann, R.

机构：

[1] Dept Pediat Nephrol, D-13353 Berlin, Germany

[2] Dept Med Genet, Berlin, Germany

[3] Dept Human Genet, Berlin, Germany

[4] Dept Diagnost & Intervent Radiol, Berlin, Germany

[5] Dept Pediat Immunol, Berlin, Germany

[6] Max Planck Inst Mol Genet, Berlin, Germany

来源：

KIDNEY INTERNATIONAL | 2006年 / 70卷 / 09期

关键词：

D O I：

10.1038/sj.ki.5001746

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：1656 / 1660

页数：5

共 17 条

[1] EMBRYONIC EXPRESSION OF LIM-1, THE MOUSE HOMOLOG OF XENOPUS XLIM-1, SUGGESTS A ROLE IN LATERAL MESODERM DIFFERENTIATION AND NEUROGENESIS [J].

BARNES, JD ;

CROSBY, JL ;

JONES, CM ;

WRIGHT, CVE ;

HOGAN, BLM .

DEVELOPMENTAL BIOLOGY, 1994, 161 (01) :168-178

[2] Clinical spectrum associated with hepatocyte nuclear factor-1β mutations [J].

Bellanné-Chantelot, C ;

Chauveau, D ;

Gautier, JF ;

Dubois-Laforgue, D ;

Clauin, S ;

Beaufils, S ;

Wilhelm, JM ;

Boitard, C ;

Noël, LH ;

Velho, G ;

Timsit, J .

ANNALS OF INTERNAL MEDICINE, 2004, 140 (07) :510-517

[3] Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1β mutations [J].

Bingham, C ;

Ellard, S ;

Cole, TRP ;

Jones, KE ;

Allen, LIS ;

Goodship, JA ;

Goodship, THJ ;

Bakalinova-Pugh, D ;

Russell, GI ;

Woolf, AS ;

Nicholls, AJ ;

Hattersley, AT .

KIDNEY INTERNATIONAL, 2002, 61 (04) :1243-1251

[4] CGHPRO - A comprehensive data analysis tool for array CGH [J].

Chen, W ;

Erdogan, F ;

Ropers, HH ;

Lenzner, S ;

Ullmann, R .

BMC BIOINFORMATICS, 2005, 6 (1)

[5] Mutations in hepatocyte nuclear factor-1β and their related phenotypes [J].

Edghill, EL ;

Bingham, C ;

Ellard, S ;

Hattersley, AT .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (01) :84-90

[6] DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones [J].

Fiegler, H ;

Carr, P ;

Douglas, EJ ;

Burford, DC ;

Hunt, S ;

Smith, J ;

Vetrie, D ;

Gorman, P ;

Tomlinson, IPM ;

Carter, NP .

GENES CHROMOSOMES & CANCER, 2003, 36 (04) :361-374

[7] A tiling resolution DNA microarray with complete coverage of the human genome [J].

Ishkanian, AS ;

Malloff, CA ;

Watson, SK ;

deLeeuw, RJ ;

Chi, B ;

Coe, BP ;

Snijders, A ;

Albertson, DG ;

Pinkel, D ;

Marra, MA ;

Ling, V ;

MacAulay, C ;

Lam, WL .

NATURE GENETICS, 2004, 36 (03) :299-303

[8] Distinct and sequential tissue-specific activities of the LIM-class. homeobox gene Lim1 for tubular morphogenesis during kidney development [J].

Kobayashi, A ;

Kwan, KM ;

Carrol, TJ ;

McMahon, AP ;

Mendelsohn, CL ;

Behringer, RR .

DEVELOPMENT, 2005, 132 (12) :2809-2823

[9] A set of BAC clones spanning the human genome [J].

Krzywinski, M ;

Bosdet, I ;

Smailus, D ;

Chiu, R ;

Mathewson, C ;

Wye, N ;

Barber, S ;

Brown-John, M ;

Chan, S ;

Chand, S ;

Cloutier, A ;

Girn, N ;

Lee, D ;

Masson, A ;

Mayo, M ;

Olson, T ;

Pandoh, P ;

Prabhu, AL ;

Schoenmakers, E ;

Tsai, M ;

Albertson, D ;

Lam, W ;

Choy, CO ;

Osoegawa, K ;

Zhao, SY ;

de Jong, PJ ;

Schein, J ;

Jones, S ;

Marra, MA .

NUCLEIC ACIDS RESEARCH, 2004, 32 (12) :3651-3660

[10] A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β [J].

Lindner, TH ;

Njolstad, PR ;

Horikawa, Y ;

Bostad, L ;

Bell, GI ;

Sovik, O .

HUMAN MOLECULAR GENETICS, 1999, 8 (11) :2001-2008

← 1 2 →