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 Custom Filters

Edit custom filters

Results by year

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

Year Number of Results
1951 1
1953 2
1958 1
1959 1
1964 5
1965 1
1966 2
1968 1
1969 4
1970 11
1971 31
1972 8
1973 10
1974 33
1975 91
1976 91
1977 100
1978 120
1979 112
1980 137
1981 116
1982 139
1983 154
1984 180
1985 172
1986 172
1987 205
1988 217
1989 228
1990 291
1991 328
1992 316
1993 634
1994 416
1995 455
1996 498
1997 504
1998 637
1999 666
2000 745
2001 702
2002 752
2003 821
2004 876
2005 947
2006 950
2007 985
2008 1029
2009 1066
2010 1110
2011 1249
2012 1324
2013 1474
2014 1470
2015 1520
2016 1524
2017 1491
2018 1647
2019 1726
2020 1913
2021 2045
2022 1991
2023 1833
2024 1856
2025 1904
2026 972

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

38,573 results

Results by year

Filters applied: . Clear all
Page 1
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Dubourg O, et al. Neuromolecular Med. 2006;8(1-2):75-86. doi: 10.1385/nmm:8:1-2:75. Neuromolecular Med. 2006. PMID: 16775368 Review.
Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT population but are more frequent in the Mediterranean basin and the Middle East because of more widespread consanguinity. ...
Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT populat …
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cereb …
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central …
Neuroacanthocytosis syndromes.
Jung HH, Danek A, Walker RH. Jung HH, et al. Orphanet J Rare Dis. 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. Orphanet J Rare Dis. 2011. PMID: 22027213 Free PMC article. Review.
NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington's …
NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core N …
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects. An autosomal recessive pattern of inheritance has been suggested, based on parental consanguinity and disease' …
The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart d …
Epidermodysplasia verruciformis. An autosomal recessive disease characterized by viral warts and skin cancer. A model for viral oncogenesis.
Lutzner MA. Lutzner MA. Bull Cancer. 1978;65(2):169-82. Bull Cancer. 1978. PMID: 212144 Review.
EV is an autosomal recessive disease which usually begins in infancy or childhood, with an average age of onset of 9. ...
EV is an autosomal recessive disease which usually begins in infancy or childhood, with an average age of onset of 9. . …
Genetics of microphthalmos.
Warburg M. Warburg M. Int Ophthalmol. 1981 Aug;4(1-2):45-65. doi: 10.1007/BF00139580. Int Ophthalmol. 1981. PMID: 6795139 Review.
New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-colobo …
New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal domin …
[Carasil].
Fukutake T. Fukutake T. Brain Nerve. 2011 Feb;63(2):99-108. Brain Nerve. 2011. PMID: 21301034 Review. Japanese.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a single-gene disorder directly affecting the cerebral small blood vessels, that is caused by mutations in the HTRA1 gene encoding HtrA serine peptidase/protease …
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a single-gene disorde …
The monogenic primary dystonias.
Müller U. Müller U. Brain. 2009 Aug;132(Pt 8):2005-25. doi: 10.1093/brain/awp172. Epub 2009 Jul 3. Brain. 2009. PMID: 19578124 Review.
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1- 4, 5a,b, 6-8, 10-13 and 15-18 (loci DYT 1-4, 5a,b, 6-8, 10-13, 15-18) have been recognized. Twelve forms are inherited as autosomal dominant, four as autosomal recessive and one as …
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1- 4, 5a,b, 6-8, 10-13 and 15-18 (loci DYT 1-4, 5a,b, 6-8, 10-13 …
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.
Kazeminasab S, Taskiran II, Fattahi Z, Bazazzadegan N, Hosseini M, Rahimi M, Oladnabi M, Haddadi M, Celik A, Ropers HH, Najmabadi H, Kahrizi K. Kazeminasab S, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-699. doi: 10.1002/ajmg.b.32648. Epub 2018 Nov 18. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30450701
The advent of high-throughput sequencing technologies has led to an exponential increase in the identification of novel disease-causing genes in highly heterogeneous diseases. A novel frameshift mutation in CNKSR1 gene was detected by Next-Generation Sequencing (NGS …
The advent of high-throughput sequencing technologies has led to an exponential increase in the identification of novel disease-causi …
38,573 results
You have reached the last available page of results. Please see the User Guide for more information.