-
1
-
-
0029785461
-
Genetic screening, testing, and treatment: How far can we go?
-
Scriver C: Genetic screening, testing, and treatment: How far can we go? J Inherit Metab Dis 19:401-411, 1996
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 401-411
-
-
Scriver, C.1
-
2
-
-
0032450916
-
The Human Genome Project: Tools for the identification of disease genes
-
Hudson T: The Human Genome Project: tools for the identification of disease genes. Clin Invest Med 21:267-276, 1998
-
(1998)
Clin Invest Med
, vol.21
, pp. 267-276
-
-
Hudson, T.1
-
3
-
-
0031926395
-
Susceptibility genes for end-organ damage. New strategies to understand diabetic and hypertensive nephropathy
-
Broeckel U, Shiozawa M, Kissebah A, et al: Susceptibility genes for end-organ damage. New strategies to understand diabetic and hypertensive nephropathy. Nephrol Dial Transplant 13:840-842, 1998
-
(1998)
Nephrol Dial Transplant
, vol.13
, pp. 840-842
-
-
Broeckel, U.1
Shiozawa, M.2
Kissebah, A.3
-
4
-
-
0032616028
-
Genomics and hypertension: Concepts, potentials, and opportunities
-
Pratt R, Dzau V: Genomics and hypertension: concepts, potentials, and opportunities. Hypertension 33:238-247, 1999
-
(1999)
Hypertension
, vol.33
, pp. 238-247
-
-
Pratt, R.1
Dzau, V.2
-
6
-
-
0031968057
-
Vesico-ureteral reflux: A genetic condition?
-
Devriendt K, Groenen P, Esch HV, et al: Vesico-ureteral reflux: a genetic condition? Eur J Pediatr 157:265-271, 1998
-
(1998)
Eur J Pediatr
, vol.157
, pp. 265-271
-
-
Devriendt, K.1
Groenen, P.2
Esch, H.V.3
-
7
-
-
0030795775
-
Genetic dissection of lupus nephritis in murine models of SLE
-
Wakeland E, Morel L, Mohan C, et al: Genetic dissection of lupus nephritis in murine models of SLE. Clin Immunol 17:272-281, 1997
-
(1997)
Clin Immunol
, vol.17
, pp. 272-281
-
-
Wakeland, E.1
Morel, L.2
Mohan, C.3
-
8
-
-
0031692515
-
DNA polymorphisms in the ACE gene, serum ACE activity and the risk of nephropathy in insulin-dependent diabetes mellitus
-
Freire M, Dijk Dv, Erman A, et al: DNA polymorphisms in the ACE gene, serum ACE activity and the risk of nephropathy in insulin-dependent diabetes mellitus. Nephrol Dial Transplant 13:2553-2558, 1998
-
(1998)
Nephrol Dial Transplant
, vol.13
, pp. 2553-2558
-
-
Freire, M.1
Dijk, D.2
Erman, A.3
-
9
-
-
0031781147
-
Association between the angiotensin-converting enzyme-insertion/deletion polymorphism and diabetic nephropathy: A methodologie appraisal and systematic review
-
Kunz R BJ, Pritsche L, Ringel J, et al: Association between the angiotensin-converting enzyme-insertion/deletion polymorphism and diabetic nephropathy: a methodologie appraisal and systematic review. J Am Soc Nephrol 9:1653-1663, 1998
-
(1998)
J Am Soc Nephrol
, vol.9
, pp. 1653-1663
-
-
Kunz, R.B.J.1
Pritsche, L.2
Ringel, J.3
-
10
-
-
0028090414
-
Genetic dissection of complex traits
-
Lander ES, Schork NJ: Genetic dissection of complex traits. Science 265:2037-2048, 1994
-
(1994)
Science
, vol.265
, pp. 2037-2048
-
-
Lander, E.S.1
Schork, N.J.2
-
11
-
-
0030582668
-
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I
-
Qian F, Watnick T, Onuchic L, et al: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87:979-987, 1996
-
(1996)
Cell
, vol.87
, pp. 979-987
-
-
Qian, F.1
Watnick, T.2
Onuchic, L.3
-
12
-
-
0030890519
-
Autosomal dominant polycystic kidney disease: A two-hit model
-
Germino G: Autosomal dominant polycystic kidney disease: a two-hit model. Hosp Pract 32:81-92, 1997
-
(1997)
Hosp Pract
, vol.32
, pp. 81-92
-
-
Germino, G.1
-
13
-
-
0002787025
-
Genetics, biochemistry, and molecular basis of variant human phenotypes
-
Scriver C, Beaudet A, Sly W, Valle D (eds): New York, NY, McGraw-Hil! Co.
-
Beaudet A, Scriver C, Sly W, et al: Genetics, biochemistry, and molecular basis of variant human phenotypes, in Scriver C, Beaudet A, Sly W, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, NY, McGraw-Hil! Co., 1995, pp 53-118
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 53-118
-
-
Beaudet, A.1
Scriver, C.2
Sly, W.3
-
14
-
-
0029447242
-
New mechanisms for genetic disease and non-traditional modes of inheritance
-
Langlois S, Lopez-Rangel E, Hall J: New mechanisms for genetic disease and non-traditional modes of inheritance. Adv Pediatr 42:91-111, 1995
-
(1995)
Adv Pediatr
, vol.42
, pp. 91-111
-
-
Langlois, S.1
Lopez-Rangel, E.2
Hall, J.3
-
15
-
-
0030882213
-
Gametic imprinting in development and disease
-
Lyle R: Gametic imprinting in development and disease. JEndocrinol 155:1-12, 1997
-
(1997)
JEndocrinol
, vol.155
, pp. 1-12
-
-
Lyle, R.1
-
16
-
-
0030973543
-
Epigenetic changes at the insulin-like growth factor II/H19 locus in developing kidney is an early event in Wilms tumorigenesis
-
Okamoto K, Morison I, Taniguchi T, et al: Epigenetic changes at the insulin-like growth factor II/H19 locus in developing kidney is an early event in Wilms tumorigenesis. Proc Natl Acad Sei USA 94:5367-5371, 1997
-
(1997)
Proc Natl Acad Sei USA
, vol.94
, pp. 5367-5371
-
-
Okamoto, K.1
Morison, I.2
Taniguchi, T.3
-
17
-
-
0032579364
-
Loss of imprinting of igf2 in renal-cell carcinomas
-
Oda H, Kume H, Shimizu Y, et al: Loss of imprinting of igf2 in renal-cell carcinomas. Int J Cancer 75:343-346, 1998
-
(1998)
Int J Cancer
, vol.75
, pp. 343-346
-
-
Oda, H.1
Kume, H.2
Shimizu, Y.3
-
18
-
-
0029074375
-
Uniparental disomy and genomic imprinting as causes of human genetic disease
-
Cassidy S: Uniparental disomy and genomic imprinting as causes of human genetic disease. Environ Mol Mutagen 25:13-20, 1995 (suppl)
-
(1995)
Environ Mol Mutagen
, vol.25
, Issue.SUPPL.
, pp. 13-20
-
-
Cassidy, S.1
-
19
-
-
0030698319
-
Growth effects of uniparental disomies and the conflict theory of genomic imprinting
-
Hurst L, McVean G: Growth effects of uniparental disomies and the conflict theory of genomic imprinting. Trends Genet 13:436-443, 1997
-
(1997)
Trends Genet
, vol.13
, pp. 436-443
-
-
Hurst, L.1
McVean, G.2
-
20
-
-
0030465635
-
Mitochondrial genetics and human disease
-
Grossman L, Shoubridge E: Mitochondrial genetics and human disease. Bioessays 18:983-991, 1996
-
(1996)
Bioessays
, vol.18
, pp. 983-991
-
-
Grossman, L.1
Shoubridge, E.2
-
21
-
-
0031000696
-
The kidney in mitochondrial cytopathies
-
Niaudet P, Rotig A: The kidney in mitochondrial cytopathies. Kidney Int 51:1000-1007, 1997
-
(1997)
Kidney Int
, vol.51
, pp. 1000-1007
-
-
Niaudet, P.1
Rotig, A.2
-
22
-
-
0032475832
-
The Human Genome Project: Reaching the finish line
-
Waterston R, Sulston J: The Human Genome Project: reaching the finish line. Science 282:53-54, 1998
-
(1998)
Science
, vol.282
, pp. 53-54
-
-
Waterston, R.1
Sulston, J.2
-
23
-
-
0032561249
-
New goals for the U.S. Human Genome Project: 1998-2003
-
Collins F, Patrinos A, Jordan E, et al: New goals for the U.S. Human Genome Project: 1998-2003. Science 282:682-689, 1998
-
(1998)
Science
, vol.282
, pp. 682-689
-
-
Collins, F.1
Patrinos, A.2
Jordan, E.3
-
24
-
-
0028917291
-
Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity
-
Iakoubova O, Dushkin H, Beier D: Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity. Genomics 26:107-114, 1995
-
(1995)
Genomics
, vol.26
, pp. 107-114
-
-
Iakoubova, O.1
Dushkin, H.2
Beier, D.3
-
25
-
-
0030776906
-
Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice
-
Woo D, Nguyen DKP, Khatibi N, et al: Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice. J Clin Invest 100:1934-1940, 1997
-
(1997)
J Clin Invest
, vol.100
, pp. 1934-1940
-
-
Woo, D.1
Nguyen, D.K.P.2
Khatibi, N.3
-
26
-
-
0028907339
-
Positional cloning moves from perditional to traditional
-
Collins F: Positional cloning moves from perditional to traditional. Nat Genet 9:347-350, 1995
-
(1995)
Nat Genet
, vol.9
, pp. 347-350
-
-
Collins, F.1
-
27
-
-
0028326794
-
Requirement of human renal water channel Aquaporin-2 for vasopressin-dependent concentration of urine
-
Deen PMT, Verdijk MAJ, Knoers NVAM, et al: Requirement of human renal water channel Aquaporin-2 for vasopressin-dependent concentration of urine. Science 264:92-95, 1994
-
(1994)
Science
, vol.264
, pp. 92-95
-
-
Deen, P.M.T.1
Verdijk, M.A.J.2
Knoers, N.3
-
28
-
-
0030032699
-
Banter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
-
Simon D, Karet F, Hamdan J, et al: Banter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13:183188, 1996
-
(1996)
Nat Genet
, vol.13
, pp. 183188
-
-
Simon, D.1
Karet, F.2
Hamdan, J.3
-
29
-
-
0029794875
-
Genetic heterogeneity of Banter's syndrome revealed by mutations in the K+ channel, ROMK
-
Simon D, Karet F, Hamdan J, et al: Genetic heterogeneity of Banter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14:152-156, 1996
-
(1996)
Nat Genet
, vol.14
, pp. 152-156
-
-
Simon, D.1
Karet, F.2
Hamdan, J.3
-
30
-
-
16944366243
-
Mutations in the chloride channel gene, CLCNKB, cause Banter's syndrome
-
Simon D, Bindra R, Mansfield T, et al: Mutations in the chloride channel gene, CLCNKB, cause Banter's syndrome. Nat Genet 17:171-178, 1997
-
(1997)
Nat Genet
, vol.17
, pp. 171-178
-
-
Simon, D.1
Bindra, R.2
Mansfield, T.3
-
31
-
-
9044235777
-
Gitelman's variant of Banter syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
-
Simon D, Nelson-Williams C, Bia M, et al: Gitelman's variant of Banter syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12:24-30, 1996
-
(1996)
Nat Genet
, vol.12
, pp. 24-30
-
-
Simon, D.1
Nelson-Williams, C.2
Bia, M.3
-
32
-
-
0028237714
-
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
-
Calonge MJ, Gasparini P, Chillaron J, et al: Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 6:420-425, 1994
-
(1994)
Nat Genet
, vol.6
, pp. 420-425
-
-
Calonge, M.J.1
Gasparini, P.2
Chillaron, J.3
-
33
-
-
0032513292
-
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3-exchanger
-
Jarolim P, Shayakul C, Prabakaran D, et al: Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3-exchanger. J Biol Chem 273:6380-6388, 1998
-
(1998)
J Biol Chem
, vol.273
, pp. 6380-6388
-
-
Jarolim, P.1
Shayakul, C.2
Prabakaran, D.3
-
34
-
-
0032943534
-
Mutations in the gene encoding Bl subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
-
Karet F, Finberg K, Nelson R, et al: Mutations in the gene encoding Bl subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21:84-90,1999
-
(1999)
Nat Genet
, vol.21
, pp. 84-90
-
-
Karet, F.1
Finberg, K.2
Nelson, R.3
-
35
-
-
0028278058
-
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
-
The European Polycystic Kidney Disease Consortium: The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-894, 1994
-
(1994)
Cell
, vol.77
, pp. 881-894
-
-
-
36
-
-
9044227270
-
Large homozygous deletions of the 2ql3 region are a major cause of juvenile nephronophthisis
-
Konrad M, Saunier S, Heidet L, et al: Large homozygous deletions of the 2ql3 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 5:367-371, 1996
-
(1996)
Hum Mol Genet
, vol.5
, pp. 367-371
-
-
Konrad, M.1
Saunier, S.2
Heidet, L.3
-
37
-
-
0030868540
-
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
-
Hildebrandt F, Otto E, Rensing C, et al: A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 17:149-153, 1998
-
(1998)
Nat Genet
, vol.17
, pp. 149-153
-
-
Hildebrandt, F.1
Otto, E.2
Rensing, C.3
-
38
-
-
0031945551
-
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
-
Town M, Jean G, Cherqui S, et al: A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18:319-332, 1998
-
(1998)
Nat Genet
, vol.18
, pp. 319-332
-
-
Town, M.1
Jean, G.2
Cherqui, S.3
-
39
-
-
0029160578
-
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
-
The HYP Consortium: A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130-136, 1995
-
(1995)
Nat Genet
, vol.11
, pp. 130-136
-
-
-
40
-
-
0032015551
-
Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome
-
Kestila M, Lenkkeri L, Mannikko M, et al: Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cells 1:575-582, 1998
-
(1998)
Mol Cells
, vol.1
, pp. 575-582
-
-
Kestila, M.1
Lenkkeri, L.2
Mannikko, M.3
-
41
-
-
0032561502
-
A physical map of 30,000 human genes
-
Deloukas P, Schuler G, Gyapay G, et al: A physical map of 30,000 human genes. Science 282:744-746, 1998
-
(1998)
Science
, vol.282
, pp. 744-746
-
-
Deloukas, P.1
Schuler, G.2
Gyapay, G.3
-
42
-
-
0029355897
-
ESTablishing a human transcript map
-
Boguski M, Schuler G: ESTablishing a human transcript map. Nat Genet 10:369-371, 1995
-
(1995)
Nat Genet
, vol.10
, pp. 369-371
-
-
Boguski, M.1
Schuler, G.2
-
43
-
-
33645864701
-
The genome project and molecular diagnosis
-
Kelley W (ed): Philadelphia, PA, Lippincott-Raven
-
Biesecker L, Biesecker B, Collins F: The genome project and molecular diagnosis, in Kelley W (ed): Textbook of Internal Medicine. Philadelphia, PA, Lippincott-Raven, 1997, pp 13-15
-
(1997)
Textbook of Internal Medicine
, pp. 13-15
-
-
Biesecker, L.1
Biesecker, B.2
Collins, F.3
|