Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie
about
The nonmotile ciliopathies.Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genesPrenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease.Determinants of renal disease variability in ADPKD.Diagnosis and screening of autosomal dominant polycystic kidney disease.Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.Molecular diagnostics for autosomal dominant polycystic kidney diseaseMutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.Genetic components of perinatal morbidity and mortality.Dysplastic and polycystic kidneys: diagnosis, associations and management.Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.Mutation detection in the repeated part of the PKD1 gene.Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.Cystic kidney diseases: many ways to form a cyst.The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease.The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.Cystic degeneration and carcinogenesis of the kidney.Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
P2860
Q27967648-3978D7E6-AC05-48A0-8CDB-55A30B3C26A8Q30395199-3327538A-38F1-4905-9EA9-F0BE4FEC485DQ33680005-F3346121-D93C-400F-9FF3-E485C9603646Q33723857-D52A3CF7-A367-42C4-8466-E653E191BFFAQ33736708-E8396248-A80D-47C1-899D-08B7E44AEFC1Q33872509-B3B173E8-6E37-47CB-8E85-FF81FB5260C0Q34100184-EABC751C-1F00-4A62-842F-21442C8029FCQ34146291-624B6878-D1F5-4F15-8BD6-B7304310193EQ34228262-33D9F6A3-0A85-4A79-B591-5F9EFE7AED07Q34305385-BE68158A-09D7-432D-AEBB-6C4022F02AE4Q34464518-61B79B97-57CD-43FC-A5AA-677B5DEACE7CQ35153173-E972BF47-BCD5-4C82-8F13-98A016A8FDA0Q35250061-B1346D30-C43E-42AF-8AC5-F3D979036C89Q35661408-FCCC2A89-92A2-49DB-AF27-C5FEF880E579Q35882462-48A803C1-BE5C-4FE5-8BB9-8ABEE3812438Q36003176-5EC774B6-2659-4C3C-98F3-F23E47D0EE8BQ36357916-61EC3732-AF8D-4246-ABF5-480B297CE4ECQ36420786-FD5326FE-FBEF-4C8D-954A-1FD4EDF2ACDDQ36624712-898883DB-5F2A-4853-BDBD-E4E01FE4235FQ38131014-78913910-F843-417C-81F6-7F3979F68E10Q38255110-82DB31E9-73DB-4FCB-A759-6B81BBD27349Q38913893-BB8690D5-A05C-4E36-BE87-B8B497AEFD69Q40890886-BB7C16C8-EC3D-47A5-A1A9-3FDC9C712AFBQ40996302-6A298E66-A0D5-4B98-AC16-9B078FA31663Q42927109-389C43DD-1624-48A4-A70E-1FDC2BBE55D8Q47781166-45DC2BEE-71D9-4001-B38C-51A29360C944
P2860
Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie
description
1993 nî lūn-bûn
@nan
1993 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Childhood onset autosomal domi ...... t für Pädiatrische Nephrologie
@ast
Childhood onset autosomal domi ...... t für Pädiatrische Nephrologie
@en
type
label
Childhood onset autosomal domi ...... t für Pädiatrische Nephrologie
@ast
Childhood onset autosomal domi ...... t für Pädiatrische Nephrologie
@en
prefLabel
Childhood onset autosomal domi ...... t für Pädiatrische Nephrologie
@ast
Childhood onset autosomal domi ...... t für Pädiatrische Nephrologie
@en
P2093
P2860
P356
P1476
Childhood onset autosomal domi ...... t für Pädiatrische Nephrologie
@en
P2093
Rudnik-Schöneborn S
P2860
P304
P356
10.1136/JMG.30.7.583
P407
P577
1993-07-01T00:00:00Z