|1|Telmisartan ameliorates fibrocystic liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. (24324698)
Yoshihara D.... Nagao S.
|2|Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). (23418007)
Sun Y.... Maat-Kievit A.J.
|3|Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. (23582048)
Brinkert F.... Kemper M.J.
|4|Comparative proteomic analysis suggests that mitochondria are involved in autosomal recessive polycystic kidney disease. (22718539)
Li Q.W.... Zhou Q.
|5|Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease. (23096905)
Oldani M.... Bertelli M.
|6|Early cyst growth is associated with the increased nuclear expression of cyclin D1/Rb protein in an autosomal-recessive polycystic kidney disease rat model. (20924203)
Schwensen K.G.... Rangan G.K.
|7|Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. (22212229)
|8|The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. (20460933)
Becker J.U.... NA1rnberger J.
|9|PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. (19914852)
Gunay-Aygun M.... Gahl W.A.
|10|Clinical aspects of autosomal recessive polycystic kidney disease. (21103689)
Dias N.F.... Koch V.H.
|11|Molecular basis of autosomal recessive chronic granulomatous disease in iran. (20407811)
Teimourian S.... Roos D.
|12|Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. (19801972)
Da Costa C.A.... Checler F.
|13|MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. (19540516)
Gunay-Aygun M.... Gahl W.A.
|14|Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? (19479854)
|15|Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa. (18506364)
|16|Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. (18286309)
Williams S.S.... Igarashi P.
|17|Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. (18624224)
Morales F.... Ashizawa T.
|18|Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation. (17109387)
Castaman G.... Rodeghiero F.
|19|HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). (17187068)
Klein C.... Welte K.
|20|Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). (16523049)
Adeva M.... Harris P.C.
|21|Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. (16775368)
Dubourg O.... Leguern E.
|22|Libyan Boy with Autosomal Recessive Trait (P22-phox Defect) of Chronic Granulomatous Disease. (21526014)
Al-Bousafy A.... Schulze I.
|23|Autosomal-recessive Charcot-Marie-Tooth diseases. (15892292)
Vallat J.M.... Grid D.
|24|Parkin expression in muscle from three patients with autosomal recessive Parkinson's disease carrying parkin mutation. (16312141)
Serdaroglu P.... Emre M.
|25|Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene. (15944907)
KabziA8ska D.... Hausmanowa-Petrusewicz I.
|26|Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). (15698423)
Bergmann C.... Zerres K.
|27|Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. (16145690)
|28|Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney disease. (15509540)
Masyuk T.V.... LaRusso N.F.
|29|Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. (15099588)
Berghoff C.... Heuss D.
|30|Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. (14722525)
Renner E.D.... Grimbacher B.
|31|PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). (15108281)
Bergmann C.... Zerres K.
|32|Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. (14561495)
Ammar N.... De Jonghe P.
|33|Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. (14582039)
TazA^n Vega B.... Torra R.
|34|Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). (12506140)
Bergmann C.... Zerres K.
|35|Multiorgan mRNA misexpression in murine autosomal recessive polycystic kidney disease. (12371956)
Gattone V.H.... Klein R.M.
|36|A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. (11112660)
Leal A.... Rautenstrauss B.
|37|Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease. (10780780)
Hofmann Y.... Onuchic L.F.
|38|Rare etiology of autosomal recessive disease in a child with noncarrier parents. (10915611)
Lebo R.V.... Kronn D.F.
|39|Clinical and molecular characterization of autosomal recessive chronic granulomatous disease caused by p47-phox deficiency]. (11008352)
Cornejo De Luigi M.... PatiA+o P.J.
|40|The human neuregulin 2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q. (10369162)
Ring H.Z.... Francke U.
|41|Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. (9802278)
LA1cking C.B.... Brice A.
|42|The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family. (9571284)
l-Dabbous R.... Farag T.I.
|43|Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. (9852256)
Leonardis L.... Rautenstrauss B.
|44|Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. (8894708)
Leguern E.... Brice A.
|45|Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. (8808595)
Tan J.... Schachter H.
|46|Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. (7581364)
Wirth B.... Burghes A.H.
|47|Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. (8071965)
El Kerch F.... Beckmann J.
|48|Autosomal recessive disease. (8333249)
Szwabowska-Orzeszko E.... MichaA8owicz R.
|49|A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance? (3681904)
Farag T.I.... Uma R.
|50|Tay-Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease. (6465844)
Koeslag J.H.... Schach S.R.