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Year Number of Results
1971 1
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1977 6
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1981 7
1982 7
1983 4
1984 9
1985 10
1986 10
1987 13
1988 10
1989 12
1990 19
1991 15
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1993 15
1994 20
1995 34
1996 38
1997 34
1998 40
1999 69
2000 61
2001 67
2002 57
2003 88
2004 71
2005 73
2006 82
2007 87
2008 88
2009 96
2010 102
2011 101
2012 111
2013 138
2014 134
2015 109
2016 147
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2019 142
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2024 48

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2,699 results

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Quoted phrase not found in phrase index: "Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive"
Page 1
Cystic fibrosis.
Radlović N. Radlović N. Srp Arh Celok Lek. 2012 Mar-Apr;140(3-4):244-9. Srp Arh Celok Lek. 2012. PMID: 22650116 Free article. Review.
Cystic fibrosis (CF) is a multisystemic autosomal recessive disease caused by a defect in the expression of CFTR protein, i.e. chloride channel present in the apical membrane of respiratory, digestive, reproductive and sweat glands epithelium. ...Beside genotype var …
Cystic fibrosis (CF) is a multisystemic autosomal recessive disease caused by a defect in the expression of CFTR protein, i.e. …
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC. Hon KL, et al. Curr Pediatr Rev. 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. Curr Pediatr Rev. 2022. PMID: 34036913 Review.
EB is due to mutation in a number of genes, some types are autosomal dominant while others are autosomal recessive. The underlying mechanism is a defect in attachment between or within the epidermis and dermis of the skin. There are four main types: epider …
EB is due to mutation in a number of genes, some types are autosomal dominant while others are autosomal recessive. The …
Osteopetrosis.
Stark Z, Savarirayan R. Stark Z, et al. Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Orphanet J Rare Dis. 2009. PMID: 19232111 Free PMC article. Review.
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. ...Osteopetrosis is caus …
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidenc …
Alpha-thalassaemia.
Harteveld CL, Higgs DR. Harteveld CL, et al. Orphanet J Rare Dis. 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. Orphanet J Rare Dis. 2010. PMID: 20507641 Free PMC article. Review.
Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia.It is probably the most common monogenic gene disorder in t …
Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a cl …
Motile ciliopathies.
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H. Wallmeier J, et al. Nat Rev Dis Primers. 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. Nat Rev Dis Primers. 2020. PMID: 32943623 Review.
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous …
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usu …
Mitochondrial Disorders.
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H. Klopstock T, et al. Dtsch Arztebl Int. 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. Dtsch Arztebl Int. 2021. PMID: 34158150 Free PMC article. Review.
The remaining disease-associated genes are coded in nuclear DNA and cause diseases that are inherited according to Mendelian rules, mostly autosomal recessive. The most severely involved organs are generally those with the highest energy requirements, …
The remaining disease-associated genes are coded in nuclear DNA and cause diseases that are inherited according to Mendelian rules, mostly …
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP. Whyte MP. Nat Rev Endocrinol. 2016 Apr;12(4):233-46. doi: 10.1038/nrendo.2016.14. Epub 2016 Feb 19. Nat Rev Endocrinol. 2016. PMID: 26893260 Review.
Autosomal recessive or dominant inheritance from ~300 predominantly missense ALPL (also known as TNSALP) mutations largely accounts for the remarkably broad-ranging expressivity of hypophosphatasia. ...Now, significant successes for severely affected paediatr …
Autosomal recessive or dominant inheritance from ~300 predominantly missense ALPL (also known as TNSALP) mutations largely acc …
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM. Cornelis SS, et al. Am J Hum Genet. 2022 Mar 3;109(3):498-507. doi: 10.1016/j.ajhg.2022.01.008. Epub 2022 Feb 3. Am J Hum Genet. 2022. PMID: 35120629 Free PMC article.
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population frequencies and penetrances are unknown. ...The risk for offspring of an STGD1-affected individual with the "severe|severe …
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their pop …
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. ...Biallelic null variants frequently show severe courses. Additionally, …
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically charact …
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequ …
Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear …
2,699 results