|1|Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. (24162162)
Krall P.... Ars E.
|2|New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications. (23593929)
Telega G.... Avner E.D.
|3|Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. (23781959)
Tazir M.... Vallat J.M.
|4|TRPV4 dysfunction promotes renal cystogenesis in autosomal recessive polycystic kidney disease. (23411787)
Zaika O.... Pochynyuk O.
|5|Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease. (22882926)
Zhang D.... Xing X.P.
|6|Inactivation of Pink1 gene in vivo sensitizes dopamine-producing neurons to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and can be rescued by autosomal recessive Parkinson disease genes, Parkin or DJ-1. (22511790)
Haque M.E.... Park D.S.
|7|A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. (21467170)
Bitner H.... Banin E.
|8|Pleuropulmonary blastoma in a child with autosomal-recessive polycystic kidney disease. (21720858)
Traubici J.... Nathan P.C.
|9|Epithelial-to-mesenchymal transition in cyst lining epithelial cells in an orthologous PCK rat model of autosomal-recessive polycystic kidney disease. (21084407)
Togawa H.... Yoshikawa N.
|10|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.
|11|Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. (20413436)
Gunay-Aygun M.... Gahl W.A.
|12|Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease. (19021639)
Michel-Calemard L.... Morel Y.
|13|A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. (19692703)
Matute J.D.... Dinauer M.C.
|14|High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease. (18403612)
Schroeder C.... Bonin M.
|15|Emerging pathways in genetic Parkinson's disease: autosomal-recessive genes in Parkinson's disease--a common pathway? (19021753)
Fitzgerald J.C.... Plun-Favreau H.
|16|Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. (18252063)
Gigarel N.... Steffann J.
|17|Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. (18487559)
Traverso M.... Minetti C.
|18|Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. (17167799)
Al-Semari A.... Bohlega S.
|19|Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. (17429049)
Rossetti S.... Harris P.C.
|20|Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. (17347251)
Bouhouche A.... Leguern E.
|21|Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive. (17717708)
Morales F.... Ashizawa T.
|22|A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease. (17001820)
Georgiou D.M.... Christodoulou K.
|23|Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. (16677351)
Goilav B.... Shneider B.L.
|24|Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies). (16551448)
Guergueltcheva V.... Kalaydjieva L.
|25|Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). (16133180)
Losekoot M.... Peters D.J.
|26|Molecular genetics of autosomal recessive polycystic kidney disease. (14741187)
Harris P.C.... Rossetti S.
|27|Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. (15286165)
Whatley S.D.... Elder G.H.
|28|Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. (15019704)
Stojkovic T.... Vermersch P.
|29|PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. (14983006)
Zhang M.Z.... Wu G.
|30|Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. (12868504)
Azzedine H.... Dubourg O.
|31|Ezrin distribution is abnormal in principal cells from a murine model of autosomal recessive polycystic kidney disease. (12840161)
Orellana S.A.... Mandapat M.L.
|32|PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression. (12620974)
Hogan M.C.... Harris P.C.
|33|A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. (12079288)
Xiong H.... Wu G.
|34|Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease. (12420720)
Rawal N.... .
|35|Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (11691526)
Protonotarios N.... Toutouzas P.
|36|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.
|37|A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. (10612508)
Zhang K.... Allikmets R.
|38|Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. (9674902)
Maman E.... Carmi R.
|39|Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. (9503014)
MA1cher G.... Zerres K.
|40|Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease). (7572421)
Antignac C.... Habib R.
|41|Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. (8268915)
Ben Othmane K.... Vance J.M.
|42|Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). (1415254)
de Boer M.... Roos D.
|43|Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). (2393022)
Francke U.... Leto T.L.
|44|Discoid lupus erythematosus-like skin changes in patients with autosomal recessive chronic granulomatous disease. (2256698)
Sillevis Smitt J.H.... Krieg S.R.
|45|Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases. (2662909)
Fine J.D.... Horiguchi Y.
|46|Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form. (3508078)
Cassidy S.B.... Zimmerman A.W.
|47|Evidence for linkage between Wilson disease and esterase D in three kindreds: detection of linkage for an autosomal recessive disorder by the family study method. (3459695)
BonnAc-Tamir B.... Kanaaneh H.
|48|Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (6962066)
SA... Maehle B.
|49|Autosomal recessive retinitis pigmentosa and Coats disease: a presumed familial incidence. (973820)
Lanier J.D.... Justice J.
|50|The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. (5116596)
Christian J.C.... Muller J.