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 7
1965 1
1966 2
1967 1
1968 1
1969 7
1970 13
1971 36
1972 13
1973 14
1974 38
1975 109
1976 107
1977 122
1978 137
1979 129
1980 162
1981 136
1982 156
1983 180
1984 211
1985 218
1986 199
1987 255
1988 252
1989 275
1990 346
1991 394
1992 401
1993 812
1994 516
1995 549
1996 624
1997 645
1998 789
1999 857
2000 931
2001 866
2002 929
2003 997
2004 1085
2005 1169
2006 1176
2007 1204
2008 1267
2009 1324
2010 1405
2011 1599
2012 1679
2013 1823
2014 1836
2015 1893
2016 1891
2017 1834
2018 2014
2019 2058
2020 2322
2021 2477
2022 2421
2023 2292
2024 2340
2025 2531
2026 1278

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

47,738 results

Results by year

Citations

10 articles found by citation matching

Search results

Filters applied: . Clear all
Page 1
Shwachman-Diamond syndrome.
Smith OP. Smith OP. Semin Hematol. 2002 Apr;39(2):95-102. doi: 10.1053/shem.2002.31915. Semin Hematol. 2002. PMID: 11957191 Review.
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, short stature, and bone marrow dysfunction. ...No unifying pathoge …
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually ma …
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 …
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 diseas
The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and …
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
Gerodermia Osteodysplastica.
Paul R, Kapoor S, Puri R, Bijarnia S. Paul R, et al. Indian J Pediatr. 2004 Dec;71(12):e77-79. Indian J Pediatr. 2004. PMID: 15630332 Review.
Gerodermia Osteodysplastica is a rare autosomal recessive connective tissue disorder included in the cutis laxa syndromes. Twenty five cases have been reported in the world literature to date. The authors report the first case from our country, a 13 year old …
Gerodermia Osteodysplastica is a rare autosomal recessive connective tissue disorder included in the cutis laxa syndrom …
Dystonia-plus syndromes.
Asmus F, Gasser T. Asmus F, et al. Eur J Neurol. 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. Eur J Neurol. 2010. PMID: 20590807 Review.
At present, the following disorders are categorized as dystonia-plus syndromes: Dopa-responsive dystonia (DRD) is a mostly pediatric-onset, neurometabolic disorder with two different modes of inheritance: in its autosomal-dominant form, heterozygous mutations …
At present, the following disorders are categorized as dystonia-plus syndromes: Dopa-responsive dystonia (DRD) is a mostly pediatric- …
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 o
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both c
Nijmegen breakage syndrome.
van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C. van der Burgt I, et al. J Med Genet. 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. J Med Genet. 1996. PMID: 8929954 Free PMC article. Review.
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. ...
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 an …
[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/p …
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a single-gene diso
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 …
47,738 results
You have reached the last available page of results. Please see the User Guide for more information.