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genetic or congenital, nephrology
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rare (U.S.)
Usually seen in those 30 years or younger.
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The results are computer generated suggestions to help you find a physician. MEDgle does not recommend any particular type of physician or claim to be complete or accurate in the providers and specialties suggested.
nephronophthisis - inherited cystic disease of kidney
Definition for nephronophthisis
http://www.webmd.com/a-to-z-guides/Medullary-Cystic-Kidney-DiseaseNephronophthisis
some common symptoms
increased thirst
not gaining weight
pain in bone(s)
urinating large amounts
some related diagnoses
1 - 7 of
43
diagnoses
diabetes mellitus type 2
diabetes insipidus
autosomal dominant polycystic kidney disease
cystinosis
renal tubular acidosis distal
chronic renal disease
insulin dependent diabetes mellitus
more
do i have 'nephronophthisis'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'nephronophthisis'
1 - 5 of
19
diagnostic tests
CT scan
nephronophthisis and CT scan
Kidney biopsy
nephronophthisis and Kidney biopsy
Molecular Genetic Studies
nephronophthisis and Molecular Genetic Studies
BUN
nephronophthisis and BUN
Complete Blood Count
nephronophthisis and Complete Blood Count
Complete metabolic panel
nephronophthisis and Complete metabolic panel
Comprehensive eye exam
nephronophthisis and Comprehensive eye exam
Hepatic ultrasonography
nephronophthisis and Hepatic ultrasonography
Serum Creatinine
nephronophthisis and Serum Creatinine
Ultrasonography kidneys ureter bladder
nephronophthisis and Ultrasonography kidneys ureter bladder
Urinalysis
Examination of urine to detect disease
nephronophthisis and Urinalysis
Electroretinogram (ERG)
nephronophthisis and Electroretinogram (ERG)
Liver Function Tests
elevated liver enzymes
nephronophthisis and Liver Function Tests
Serum calcium
nephronophthisis and Serum calcium
Serum phosphorus
nephronophthisis and Serum phosphorus
Skeletal radiograph survey
nephronophthisis and Skeletal radiograph survey
CT kidneys
nephronophthisis and CT kidneys
serum electrolytes
nephronophthisis and serum electrolytes
urine output
nephronophthisis and urine output
for more please login, login is free (click to login)
therapeutic procedures for 'nephronophthisis'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for nephronophthisis:
therapeutic procedure search results for 'nephronophthisis'
1 - 3 of
3
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Kidney transplantation
nephronophthisis and Kidney transplantation
Hemodialysis
nephronophthisis and Hemodialysis
Peritoneal dialysis
nephronophthisis and Peritoneal dialysis
medications search results for 'nephronophthisis'
1 - 3 of
3
medications
rankings are computer generated. please consult your health care provider.
growth hormone
nephronophthisis and growth hormone
Erythropoietin
nephronophthisis and Erythropoietin
Epoetin alfa
nephronophthisis and Epoetin alfa
web search results for nephronophthisis
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Results
1 - 50
- nephronophthisis
Nephronophthisis - Wikipedia, the free encyclopedia
Nephronophthisis is a genetic disorder of the kidneys which affects children. ... Nephronophthisis" ... Nephronophthisis-associated ciliopathies" ...
http://en.wikipedia.org/wiki/Nephronophthisis
en.wikipedia.org
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summary
Medullary Cystic Kidney Disease/Nephronophthisis - Yahoo! Health
Important It is possible that the main title of the report Medullary Cystic Kidney Disease/Nephronophthisis is not the name you expected. Please check the synonyms ...
http://health.yahoo.com/urinary-overview/medullary-cystic-ki...
health.yahoo.com
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summary
Nephronophthisis 1 (juvenile) (NPHP1)
Human protein-coding gene NPHP1. Represented by 94 ESTs from 54 cDNA libraries. ... Homo sapiens nephronophthisis 1 (juvenile), mRNA (cDNA clone MGC:75120 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=280388
www.ncbi.nlm.nih.gov
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summary
Medullary Cystic Kidney Disease/Nephronophthisis
Important It is possible that the main title of the report Medullary Cystic Kidney Disease/Nephronophthisis is not the name you expected. Please check the synonyms ...
http://www.webmd.com/a-to-z-guides/medullary-cystic-kidney-d...
www.webmd.com
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summary
[EDTA] Medullary cystic disease, including nephronophthisis, associated ...
You must enable JavaScript to run the NextBio application ... cystic disease, including nephronophthisis, associated with renal failure ...
http://www.nextbio.com/b/home/home.nb?q=[EDTA]+Medullary+cys...
www.nextbio.com
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summary
Nephronophthisis 1 (juvenile) homolog (human) (Nphp1)
Norway rat protein-coding gene Nphp1. Represented by 68 ESTs from 40 cDNA libraries. ... Rattus norvegicus nephronophthisis 1 (juvenile) homolog (human), mRNA (cDNA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=32745
www.ncbi.nlm.nih.gov
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summary
[EDTA] Medullary cystic disease, including nephronophthisis, associated ...
You must enable JavaScript to run the NextBio application ... cystic disease, including nephronophthisis, associated with renal failure (disorder) ...
http://www.nextbio.com/b/home/home.nb?q=[EDTA]+Medullary+cys...
www.nextbio.com
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summary
Nephronophthisis 4, mRNA (cDNA clone MGC:39505 IMAGE:5295140) (NPHP4)
Human protein-coding gene NPHP4. Represented by 142 ESTs from 75 cDNA libraries. ... Homo sapiens nephronophthisis 4 (NPHP4) mRNA, complete cds. P. AY118228.1 ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=462348
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis 3 (adolescent) (NPHP3), mRNA (NPHP3)
Human protein-coding gene NPHP3. Represented by 148 ESTs from 94 cDNA libraries. ... Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA. PA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511991
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis 3 (adolescent) (NPHP3)
Human protein-coding gene NPHP3. Represented by 149 ESTs from 95 cDNA libraries. ... Nephronophthisis 3 (adolescent) (NPHP3) SELECTED PROTEIN SIMILARITIES ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=511991
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis 1 (juvenile) homolog (human) (Nphp1), mRNA (Nphp1)
Mouse protein-coding gene Nphp1. Represented by 148 ESTs from 65 cDNA libraries. ... Mus musculus nephronophthisis 1 (juvenile) homolog (human), mRNA (cDNA clone MGC: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=210766
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis 4 (juvenile) homolog (human) (Nphp4), mRNA (Nphp4)
Mouse protein-coding gene Nphp4. Represented by 71 ESTs from 44 cDNA libraries. ... Mus musculus nephronophthisis 4 (juvenile) homolog (human), mRNA (cDNA clone MGC: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=302496
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis 3 (adolescent) (Nphp3), transcript variant 1, mRNA (Nphp3)
Mouse protein-coding gene Nphp3. Represented by 289 ESTs from 128 cDNA libraries. ... Mus musculus nephronophthisis 3 (adolescent), mRNA (cDNA clone MGC:141550 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=41274
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis-associated ciliopathies.
Nephronophthisis-associated ciliopathies. Hildebrandt F, Zhou W. ... Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, ...
http://www.ncbi.nlm.nih.gov/pubmed/17513324
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis-like nephritis associated with fibrous dysplasia of bone.
Nephronophthisis is a chronic tubulointerstitial nephritis with autosomal ... to kidney biopsy, which showed nephronophthisis-like lesions, but neither NPHP1 ...
http://www.ncbi.nlm.nih.gov/pubmed/18512082?ordinalpos=9&ito...
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis.
Nephronophthisis. Simms RJ, Eley L, Sayer JA. ... Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized ...
http://www.ncbi.nlm.nih.gov/pubmed/19066617?ordinalpos=4&ito...
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis?Medullary Cystic Disease Complex: Tubular and Cystic ...
Nephronophthisis?medullary cystic disease complex is a group of disorders in ... With nephronophthisis, the symptoms begin in children age one year or older and ...
http://www.merck.com/mmhe/print/sec11/ch146/ch146l.html
www.merck.com
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summary
Nephronophthisis
Nephronophthisis is a chronic tubulointerstitial ... Nephronophthisis ... Nephronophthisis, which may be associated with tapetoretinal degeneration or ...
http://www.orpha.net/data/patho/GB/uk-nephro.pdf
www.orpha.net
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summary
NePHronophthisis (human kidney disease) homolog, Caenorhabditis elegans ...
A summary of the mRNA sequence representatives for a transcribed locus ... NePHronophthisis (human kidney disease) homolog (nph-1) SELECTED PROTEIN SIMILARITIES ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Cel&CID=14718
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis 4 (juvenile) homolog (human) (Nphp4)
Norway rat protein-coding gene Nphp4. Represented by 17 ESTs from 14 cDNA libraries. ... Rattus norvegicus nephronophthisis 4 (juvenile) homolog (human), mRNA (cDNA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=72800
www.ncbi.nlm.nih.gov
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summary
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent ... genes causing nephronophthisis, since in 224/250 (90%) patients, no sequence ...
http://www.ncbi.nlm.nih.gov/pubmed/15776426
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis?Medullary Cystic Disease Complex: Tubular and Cystic ...
Nephronophthisis?medullary cystic disease complex is a group of hereditary ... With nephronophthisis, the symptoms begin in children age one year or older and ...
http://www.merck.com/mmhe/sec11/ch146/ch146l.html
www.merck.com
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summary
Nephronophthisis.
1: Curr Opin Genet Dev. 2005 Jun;15(3):324-31. Nephronophthisis. Saunier S, Salomon R, Antignac C. ... in understanding the molecular basis of nephronophthisis, ...
http://www.ncbi.nlm.nih.gov/pubmed/15917209
www.ncbi.nlm.nih.gov
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Human adolescent nephronophthisis: gene locus synteny with polycystic ...
Human adolescent nephronophthisis: gene locus synteny with polycystic kidney ... renal cystic disorder of the nephronophthisis/medullary cystic group of diseases ...
http://www.ncbi.nlm.nih.gov/pubmed/11134256
www.ncbi.nlm.nih.gov
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summary
Nephronophthisis and Medullary Cystic Kidney Disease Complex: Cystic ...
Nephronophthisis: Inheritance is autosomal recessive. Nephronophthisis accounts for 10 to 20% of chronic renal failure in children and ...
http://www.merck.com/mmpe/sec17/ch232/ch232e.html
www.merck.com
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summary
Nephronophthisis and ulcerative colitis in siblings: a new association.
Nephronophthisis (NPH) is a chronic tubulointerstitial nephritis leading to ... The disease is heterogeneous, but usually the inheritance pattern is autosomal ...
http://www.ncbi.nlm.nih.gov/pubmed/11420917
www.ncbi.nlm.nih.gov
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summary
Mutations in INVS encoding inversin cause nephronophthisis type 2 ...
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, leads to ... and a gene locus associated with infantile nephronophthisis (NPHP2) was mapped. ...
http://www.ncbi.nlm.nih.gov/pubmed/12872123
www.ncbi.nlm.nih.gov
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summary
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis ...
... NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration ... Nephronophthisis (NPHP), a group of autosomal recessive cystic kidney disorders, ...
http://www.ncbi.nlm.nih.gov/pubmed/12872122
www.ncbi.nlm.nih.gov
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summary
Talk:Nephronophthisis - Wikipedia, the free encyclopedia
Talk:Nephronophthisis. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... Retrieved from "http://en.wikipedia.org/wiki/Talk:Nephronophthisis" ...
http://en.wikipedia.org/wiki/Talk:Nephronophthisis
en.wikipedia.org
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summary
Identification of the first AHI1 gene mutations in nephronophthisis ...
... AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. ... renal failure characterized by nephronophthisis (NPHP) and/or retinal dystrophy. ...
http://www.ncbi.nlm.nih.gov/pubmed/16240161
www.ncbi.nlm.nih.gov
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summary
Introduction: Cystic Kidney Disease: Merck Manual Professional
... (polycystic kidney disease, nephronophthisis, medullary cystic disease) ... Similar to nephronophthisis but ESRD in adulthood. Nephronophthisis ...
http://www.merck.com/mmpe/print/sec17/ch232/ch232a.html
www.merck.com
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INVS - NextBio
INVS: This gene encodes a protein containing multiple ankyrin domains ... Nephronophthisis. Iodipamide. Lung. Ascites. Isoxicam. Subcutaneous adipose tiss...
http://www.nextbio.com/b/home/home.nb?q=INVS
www.nextbio.com
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Introduction: Cystic Kidney Disease: Merck Manual Professional
... · Congenital Renal Cystic Dysplasia· Medullary Sponge Kidney· Nephronophthisis and ... (polycystic kidney disease, nephronophthisis, medullary cystic disease) ...
http://www.merck.com/mmpe/sec17/ch232/ch232a.html
www.merck.com
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summary
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a ...
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel ... Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney ...
http://www.ncbi.nlm.nih.gov/pubmed/12205563
www.ncbi.nlm.nih.gov
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P Nürnberg - NextBio
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. ... Nephronophthisis (NPHP), an autosomal recessive kidney ...
http://www.nextbio.com/b/literature/literature.nb?author=P+N%C3%BCrnberg
www.nextbio.com
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summary
Loss of GLIS2 causes nephronophthisis in humans and mice by increased ...
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis ... Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most ...
http://www.ncbi.nlm.nih.gov/pubmed/17618285
www.ncbi.nlm.nih.gov
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Nephrogenic Diabetes Insipidus: Tubular and Cystic Kidney Disorders ...
Bone, Joint, and Muscle Disorders. Brain, Spinal Cord, and Nerve Disorders. Cancer ... Diabetes Insipidus· Nephronophthisis?Medullary Cystic Disease Complex ...
http://www.merck.com/mmhe/sec11/ch146/ch146d.html
www.merck.com
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summary
Polycystic Kidney Disease (PKD): Tubular and Cystic Kidney Disorders ...
Bone, Joint, and Muscle Disorders. Brain, Spinal Cord, and Nerve ... Previous: Nephronophthisis?Medullary Cystic Disease Complex. Next: Renal Glucosuria ...
http://www.merck.com/mmhe/sec11/ch146/ch146k.html
www.merck.com
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INVS(inv) - NextBio
inv: This gene encodes a protein containing multiple ankyrin domains ... Nephronophthisis. Iodipamide. Lung. Ascites. Isoxicam. Subcutaneous adipose tiss...
http://www.nextbio.com/b/home/home.nb?q=inv
www.nextbio.com
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Polycystic Kidney Disease (PKD): Cystic Kidney Disease: Merck Manual ...
... · Congenital Renal Cystic Dysplasia· Medullary Sponge Kidney· Nephronophthisis and ... Previous: Nephronophthisis and Medullary Cystic Kidney Disease Complex ...
http://www.merck.com/mmpe/sec17/ch232/ch232f.html
www.merck.com
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Search Results
Nephronophthisis and Medullary Cystic Kidney Disease Complex: Cystic Kidney ... Nephronophthisis and medullary cystic kidney disease are inherited disorders. ...
http://www.merck.com/mrksearch/SearchServlet?filtN=professio...
www.merck.com
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NEK8 mutations affect ciliary and centrosomal localization and may ...
... affect ciliary and centrosomal localization and may cause nephronophthisis. ... Nephronophthisis, an autosomal recessive kidney disease, is the most frequent ...
http://www.ncbi.nlm.nih.gov/pubmed/18199800?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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NPHP1 - Wikipedia, the free encyclopedia
a b "Entrez Gene: NPHP1 nephronophthisis 1 (juvenile) ... A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel ...
http://en.wikipedia.org/wiki/NPHP1
en.wikipedia.org
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Interaction of nephrocystin-4 and RPGRIP1 is disrupted by ...
... RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis ... LCA, or by mutations in NPHP4, found in patients with nephronophthisis or SLSN. ...
http://www.ncbi.nlm.nih.gov/pubmed/16339905?ordinalpos=17&it...
www.ncbi.nlm.nih.gov
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summary
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome ...
Kidney involvement (nephronophthisis or cystic renal dysplasia) is associated ... NPHP1 and NPHP6 are major genes of nephronophthisis associated with JS. ...
http://www.ncbi.nlm.nih.gov/pubmed/17409309
www.ncbi.nlm.nih.gov
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Association of INVS (NPHP2) mutation in an adolescent exhibiting ...
... in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. ... (inv/inv) and the INVS (NPHP2) gene in human infantile nephronophthisis (NPH) ...
http://www.ncbi.nlm.nih.gov/pubmed/18218308
www.ncbi.nlm.nih.gov
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Acquired Renal Cysts: Cystic Kidney Disease: Merck Manual Professional
Ear, Nose, Throat, and Dental Disorders. Endocrine and Metabolic ... · Congenital Renal Cystic Dysplasia· Medullary Sponge Kidney· Nephronophthisis and ...
http://www.merck.com/mmpe/sec17/ch232/ch232b.html
www.merck.com
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Medullary Sponge Kidney: Cystic Kidney Disease: Merck Manual Professional
... · Congenital Renal Cystic Dysplasia·Medullary Sponge Kidney· Nephronophthisis and ... Next: Nephronophthisis and Medullary Cystic Kidney Disease Complex ...
http://www.merck.com/mmpe/sec17/ch232/ch232d.html
www.merck.com
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NPHP4 - Wikipedia, the free encyclopedia
a b "Entrez Gene: NPHP4 nephronophthisis 4" ... Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. ...
http://en.wikipedia.org/wiki/NPHP4
en.wikipedia.org
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AceView: Gene:NPHP3andACAD11, a comprehensive annotation of human ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and ... as nephronophthisis 3, nephrocystin ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=ACAD11
www.ncbi.nlm.nih.gov
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