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

Year Number of Results
1971 1
1978 1
1981 1
1987 2
1988 2
1989 1
1991 1
1993 2
1994 1
1995 3
1996 5
1999 2
2000 2
2002 2
2003 2
2005 3
2006 1
2007 3
2008 3
2009 2
2010 1
2011 5
2012 4
2013 3
2014 1
2015 3
2016 3
2017 2
2018 2
2019 2
2020 4
2021 4
2022 2
2023 5
2024 1

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76 results

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Page 1
Ciliopathy: Bardet-Biedl Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:171-174. doi: 10.1007/978-3-319-95046-4_33. Adv Exp Med Biol. 2018. PMID: 30578506 Review.
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). ...Eventually, the macula may show atrophic changes (Figs. 33.1, …
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixe …
Alpha-mannosidosis.
Malm D, Nilssen Ø. Malm D, et al. Orphanet J Rare Dis. 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. Orphanet J Rare Dis. 2008. PMID: 18651971 Free PMC article. Review.
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. ...The disorder is caused by ly …
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing …
Prevalence of propionic acidemia in China.
Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z, Wang C, Chen X, Zhu S, Zhang GF, Wang Y. Zhang Y, et al. Orphanet J Rare Dis. 2023 Sep 9;18(1):281. doi: 10.1186/s13023-023-02898-w. Orphanet J Rare Dis. 2023. PMID: 37689673 Free PMC article. Review.
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...Late-onset cases of PA have a more heterogeneous clinical spectra, including growth retardation, intellectual disability, seizure …
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...Lat …
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P, Milone M. Chompoopong P, et al. Genes (Basel). 2023 Jan 31;14(2):372. doi: 10.3390/genes14020372. Genes (Basel). 2023. PMID: 36833299 Free PMC article. Review.
Impaired GMPPB function reduces the amount of GDP-mannose available for the O-mannosylation of alpha-dystroglycan (alpha-DG) and ultimately leads to disruptions of the link between alpha-DG and extracellular proteins, hence dystroglycanopathy. GMPPB-related disorders are inherite …
Impaired GMPPB function reduces the amount of GDP-mannose available for the O-mannosylation of alpha-dystroglycan (alpha-DG) and ultimately …
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review.
Mir YR, Kuchay RAH. Mir YR, et al. J Med Genet. 2019 Sep;56(9):567-573. doi: 10.1136/jmedgenet-2018-105821. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842223 Review.
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%-3% of the general population. ...The total number of autosomal recessive ID (ARID) genes is estimated to be very high, and most are still unknown. …
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%-3% of the general pop …
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20) CNTNAP2 variants and carried out a literature review to characterize the genotype-phenotype correlation. Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental de …
We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20) CNTNAP2 variants and carried out a literature review to characte …
Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.
Hennermann JB, Raebel EM, Donà F, Jacquemont ML, Cefalo G, Ballabeni A, Malm D. Hennermann JB, et al. Orphanet J Rare Dis. 2022 Jul 23;17(1):287. doi: 10.1186/s13023-022-02422-6. Orphanet J Rare Dis. 2022. PMID: 35871018 Free PMC article. Review.
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. ...Median age at death for patients identified from the literature was 4.3 years (mean 15.7 17.0, range 2.2-41, n = …
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of al …
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. ...The principal clinical manifestations of the syndrome a …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by mic …
The RNA Exosome and Human Disease.
Fasken MB, Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH. Fasken MB, et al. Methods Mol Biol. 2020;2062:3-33. doi: 10.1007/978-1-4939-9822-7_1. Methods Mol Biol. 2020. PMID: 31768969 Review.
Mutations in the structural exosome gene EXOSC2 cause a distinct syndrome that includes retinitis pigmentosa, hearing loss, and mild intellectual disability. In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia ty …
Mutations in the structural exosome gene EXOSC2 cause a distinct syndrome that includes retinitis pigmentosa, hearing loss, and mild inte …
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S, Nardella G, Castellana S, Micale L, Copetti M, Fusco C, Castori M. Morlino S, et al. Am J Med Genet A. 2021 Mar;185(3):955-965. doi: 10.1002/ajmg.a.62047. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369135 Review.
ATP6V0A2-related cutis laxa, also known as autosomal recessive cutis laxa type 2A (ARCL2A), is a subtype of hereditary cutis laxa originally characterized by skin, skeletal, and neurological involvement, and a combined defect of N-glycosylation and O-glycosylation. …
ATP6V0A2-related cutis laxa, also known as autosomal recessive cutis laxa type 2A (ARCL2A), is a subtype of hereditary cutis l …
76 results