Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1969 1
1974 1
1975 3
1976 1
1977 1
1978 5
1979 7
1980 5
1981 5
1982 6
1983 7
1984 5
1985 6
1986 9
1987 12
1988 7
1989 7
1990 9
1991 11
1992 20
1993 21
1994 22
1995 27
1996 40
1997 38
1998 50
1999 61
2000 59
2001 51
2002 47
2003 62
2004 71
2005 68
2006 65
2007 66
2008 91
2009 75
2010 83
2011 99
2012 98
2013 118
2014 117
2015 112
2016 125
2017 122
2018 123
2019 124
2020 143
2021 140
2022 138
2023 115
2024 58

Text availability

Article attribute

Article type

Publication date

Search Results

2,466 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"
Page 1
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 …
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 …
Effects of a core stability exercise program on balance and coordination in children with cerebellar ataxic cerebral palsy.
Elshafey MA, Abdrabo MS, Elnaggar RK. Elshafey MA, et al. J Musculoskelet Neuronal Interact. 2022 Jun 1;22(2):172-178. J Musculoskelet Neuronal Interact. 2022. PMID: 35642697 Free PMC article. Clinical Trial.
Both groups were evaluated pre-treatment and post-treatment using the Scale for the Assessment and Rating of Ataxia, the Balance Error Scoring Systems scale, Bruininks-Oseretsky tests of motor proficiency, and HUMAC balance system scores. RESULTS: We found st …
Both groups were evaluated pre-treatment and post-treatment using the Scale for the Assessment and Rating of Ataxia, the Balance Error Sc …
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. ...In this cross-sectional study, 1,619 ABCA4 variants from 5,579 individuals with STGD1 we …
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their pop …
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M, Lehesjoki AE, Mole SE. Kousi M, et al. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 21990111 Review.
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features include a variable age of onset, motor and mental decline, epilepsy, visual loss, and prem …
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous neurodegenerative disorders. Most are autosomal …
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. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transm …
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically charact …
Genetics of Hypertriglyceridemia.
Dron JS, Hegele RA. Dron JS, et al. Front Endocrinol (Lausanne). 2020 Jul 24;11:455. doi: 10.3389/fendo.2020.00455. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32793115 Free PMC article. Review.
A range of genetic variants, from single-nucleotide variants to large-scale copy number variants, can lead to either the severe or mild-to-moderate forms of the disease. At the genetic level, severely elevated triglyceride levels resulting from familial chylomicrone …
A range of genetic variants, from single-nucleotide variants to large-scale copy number variants, can lead to either the severe or mi …
Inborn errors of STAT1 immunity.
Mizoguchi Y, Okada S. Mizoguchi Y, et al. Curr Opin Immunol. 2021 Oct;72:59-64. doi: 10.1016/j.coi.2021.02.009. Epub 2021 Apr 8. Curr Opin Immunol. 2021. PMID: 33839590 Review.
Inborn errors of human STAT1 immunity underlie 4 distinct disorders: autosomal recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency, autosomal dominant (AD) STAT1 deficiency, and AD STAT1 gain-of-function. Each disease presents distinct clini …
Inborn errors of human STAT1 immunity underlie 4 distinct disorders: autosomal recessive (AR) complete STAT1 deficiency, AR pa …
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. ...
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe n …
Neonatal hemochromatosis.
Knisely AS, Mieli-Vergani G, Whitington PF. Knisely AS, et al. Gastroenterol Clin North Am. 2003 Sep;32(3):877-89, vi-vii. doi: 10.1016/s0889-8553(03)00050-5. Gastroenterol Clin North Am. 2003. PMID: 14562579 Review.
Extensive liver damage is the dominant clinical feature, with late fetal loss or early neonatal death. NH recurs within sibships at a rate higher than that predicted for simple Mendelian autosomal-recessive inheritance, possibly suggesting the role of a mater …
Extensive liver damage is the dominant clinical feature, with late fetal loss or early neonatal death. NH recurs within sibships at a rate h …
2,466 results