Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene

1999 ◽  
Vol 10 (12) ◽  
pp. 1175-1178 ◽  
Author(s):  
Luiz F. Onuchic ◽  
Michal Mrug ◽  
Alicia L. Lakings ◽  
Gabi Muecher ◽  
Jutta Becker ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Genomic Organization ◽  
Hepatic Disease ◽  
Polycystic Kidney

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as aPKHD1 candidate gene

2002 ◽  
Vol 110 (4) ◽  
pp. 346-352 ◽  
Author(s):  
Luiz F. Onuchic ◽  
Michal Mrug ◽  
Xiaoying Hou ◽  
Thomas Eggermann ◽  
Carsten Bergmann ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Candidate Gene ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Ef Hand

The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene

1999 ◽  
Vol 105 (1-2) ◽  
pp. 98-103 ◽  
Author(s):  
S. Nicole ◽  
P.S. White ◽  
H. Topaloglu ◽  
P. Beigthon ◽  
M. Salih ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Genomic Organization

The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene

1999 ◽  
Vol 105 (1-2) ◽  
pp. 98-103 ◽  
Author(s):  
S. Nicole ◽  
P.S. White ◽  
H. Topaloglu ◽  
P. Beigthon ◽  
M. Salih ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Genomic Organization

Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat

2008 ◽  
Vol 51 (4) ◽  
pp. 325-331 ◽  
Author(s):  
Pamela J. Kaisaki ◽  
Carsten Bergmann ◽  
Joanna H. Brown ◽  
Patricia Outeda ◽  
Xosé M. Lens ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Genomic Organization ◽  
Mutation Screening ◽  
Polycystic Kidney ◽  
Human Ortholog

Genomic Organization and Mutational Analysis of the Human UCP2 Gene, a Prime Candidate Gene for Human Obesity

1999 ◽  
Vol 19 (1-4) ◽  
pp. 229-244 ◽  
Author(s):  
Klaus-Ulrich Lentes ◽  
Naxin Tu ◽  
Hongmei Chen ◽  
Ulrike Winnikes ◽  
Irmtraud Reinert ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Genomic Organization ◽  
Mutational Analysis ◽  
Human Obesity ◽  
Ucp2 Gene

Human NDUFB9 Gene: Genomic Organization and a Possible Candidate Gene Associated with Deafness Disorder Mapped to Chromosome 8q13

1999 ◽  
Vol 49 (2) ◽  
pp. 75-80 ◽  
Author(s):  
Xin Lin ◽  
Dan E. Wells ◽  
William J. Kimberling ◽  
Shrawan Kumar
Keyword(s):  
Candidate Gene ◽  
Genomic Organization

scholarly journals Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report

2018 ◽  
Vol 6 (9) ◽  
pp. 296-300
Author(s):  
Su Lin ◽  
Tian-Yu Shang ◽  
Ming-Fang Wang ◽  
Jian Lin ◽  
Xiao-Jian Ye ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutations ◽  
Hepatic Disease ◽  
Polycystic Kidney

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

2010 ◽  
Vol 25 (11) ◽  
pp. 2375-2376 ◽  
Author(s):  
Tomáš Seeman ◽  
Eva Seemanová ◽  
Gudrun Nuernberg ◽  
Peter Nuernberg ◽  
Sabine Janssen ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Hepatic Disease ◽  
Polycystic Kidney
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