|1|HINT1 mutations define a novel disease entity - autosomal recessive axonal neuropathy with neuromyotonia. (23043279)
|2|Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation. (23389334)
Zhou X.H.... Li Y.
|3|Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric study. (22076432)
Chapal M.... Fakhouri F.
|4|Autosomal recessive polycystic kidney disease epithelial cell model reveals multiple basolateral epidermal growth factor receptor sorting pathways. (20519437)
Ryan S.... Carlin C.R.
|5|Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. (20400910)
Goto M.... Dell K.M.
|6|Transplantation and autosomal recessive polycystic kidney disease. (20617628)
Jackson J.... Kirk A.D.
|7|Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. (20637082)
Teeuw M.E.... Ten Kate L.P.
|8|The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease. (20798958)
Goto M.... Dell K.M.
|9|Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. (19940839)
Denamur E.... Wann A.R.
|10|Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease. (18826972)
Wang X.... Torres V.E.
|11|Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. (19506356)
Castaman G.... Rodeghiero F.
|12|Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). (19089418)
Turkbey B.... Gunay-Aygun M.
|13|Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions. (19506355)
|14|A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. (19375058)
Duncan A.J.... Rahman S.
|15|Autosomal recessive chronic granulomatous disease, IgA deficiency and refractory autoimmune thrombocytopenia responding to Anti-CD20 monoclonal antibody. (18780954)
Shamsian B.S.... Arzanian M.T.
|16|Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. (18334942)
Riveiro-Alvarez R.... Ayuso C.
|17|Molecular basis of autosomal recessive polycystic kidney disease (ARPKD). (18156813)
Al-Bhalal L.... Akhtar M.
|18|Mechanoregulation of intracellular Ca2+ in human autosomal recessive polycystic kidney disease cyst-lining renal epithelial cells. (18256315)
Rohatgi R.... Satlin L.M.
|19|PINK-1 and DJ-1--new genes for autosomal recessive Parkinson's disease. (17017532)
|20|A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. (16728649)
Maystadt I.... Viollet L.
|21|Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. (16937026)
El Kares R.... Dellagi M.K.
|22|Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). (16199545)
Bergmann C.... Zerres K.
|23|Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. (15696446)
Consugar M.B.... Harris P.C.
|24|Congenital hypothyroidism in association with Caroli's disease and autosomal recessive polycystic kidney disease: patient report. (15813611)
Jeha G.S.... Heptulla R.A.
|25|Liver disease in autosomal recessive polycystic kidney disease. (16176423)
Shneider B.L.... Magid M.S.
|26|Impact of liver transplantation on renal function of patients with congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease. (15598323)
Arikan C.... Aydogdu S.
|27|Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. (14607793)
Tazir M.... Grid D.
|28|Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. (12707075)
Birouk N.... Le Guern E.
|29|Autosomal recessive polycystic kidney disease: outcomes from a single-center experience. (12579400)
Capisonda R.... Guay-Woodford L.M.
|30|The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. (12925569)
Huynh D.P.... Pulst S.M.
|31|Autosomal recessive polycystic kidney disease with congenital hepatic fibrosis and encephalocele. (11255310)
Kumar S.... Bhatt B.V.
|32|Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. (11166163)
Barhoumi C.... Hentati F.
|33|Role of CFTR in autosomal recessive polycystic kidney disease. (11274233)
Nakanishi K.... Avner E.D.
|34|Autosomal recessive chronic granulomatous disease caused by defects in NCF1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF1 pseudogenes. (11133775)
Noack D.... Heyworth P.G.
|35|Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update). (11112388)
Cross A.R.... Heyworth P.G.
|36|Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. (10706888)
Roesler J.... Goerlach A.
|37|Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. (10874631)
Rozet J.M.... Kaplan J.
|38|Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. (10598813)
Noack D.... Heyworth P.G.
|39|Mn SOD activity and protein in a patient with chromosome 6-linked autosomal recessive parkinsonism in comparison with Parkinson's disease and control. (9371904)
Shimoda-Matsubayashi S.... Mizuno Y.
|40|A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. (9002528)
Hoppe B.... Leumann E.
|41|Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease. (8597639)
Onuchic L.F.... Reeders S.T.
|42|Epidermal growth factor ameliorates autosomal recessive polycystic kidney disease in mice. (7781894)
Gattone V.H.... Cowley B.D.
|43|Factor VIII:C increases after desmopressin in a subgroup of patients with autosomal recessive severe von Willebrand disease. (7833254)
Castaman G.... Rodeghiero F.
|44|Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. (8291561)
Turco A.E.... Turolla L.
|45|Molecular basis of the autosomal recessive forms of chronic granulomatous disease. (1554499)
|46|Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. (1986109)
Ishidate T.... Kamatani N.
|47|Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. (3377007)
Kaplan B.S.... Russo P.
|48|Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. (3351909)
Santos H.... Leal M.J.
|49|Type IIB von Willebrand's disease with probable autosomal recessive inheritance and presenting as thrombocytopenia in infancy. (3497666)
DonnAcr M.... Nilsson I.M.
|50|Discoid lupus erythematosus-like skin lesions in a patient with autosomal recessive chronic granulomatous disease. (3780033)
Strate M.... Wang P.