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
1962 1
1963 5
1964 17
1965 6
1966 6
1967 15
1968 14
1969 17
1970 36
1971 42
1972 32
1973 31
1974 36
1975 34
1976 34
1977 26
1978 25
1979 37
1980 25
1981 41
1982 38
1983 53
1984 41
1985 68
1986 59
1987 91
1988 131
1989 169
1990 166
1991 180
1992 179
1993 226
1994 180
1995 198
1996 188
1997 215
1998 237
1999 289
2000 303
2001 395
2002 296
2003 317
2004 343
2005 330
2006 323
2007 322
2008 351
2009 356
2010 389
2011 403
2012 409
2013 482
2014 510
2015 487
2016 477
2017 541
2018 524
2019 502
2020 496
2021 467
2022 476
2023 340
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

11,997 results

Results by year

Filters applied: . Clear all
The following term was not found in PubMed: neutropenia-myelofibrosis-nephromegaly
Page 1
Syndromes associated with dental agenesis.
De Santis D, Sinigaglia S, Faccioni P, Pancera P, Luciano U, Bertossi D, Lucchese A, Albanese M, Nocini PF. De Santis D, et al. Minerva Stomatol. 2019 Feb;68(1):42-56. doi: 10.23736/S0026-4970.18.04129-8. Minerva Stomatol. 2019. PMID: 30667203 Review.
The aim of this work was to investigate the syndromic conditions characterized by dental agenesis. EVIDENCE ACQUISITION: Based on the research conducted through the OMIM (Online Mendelian Inheritance in Man) and PubMed online databases, more than ninety syndromes as …
The aim of this work was to investigate the syndromic conditions characterized by dental agenesis. EVIDENCE ACQUISITION: Based on the …
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. ...The complexity and the severity of the clinical presentation at birth and …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD. Rosenfeld E, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):682-692. doi: 10.1002/ajmg.c.31737. Epub 2019 Aug 14. Am J Med Genet C Semin Med Genet. 2019. PMID: 31414570 Free PMC article. Review.
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. ...There are at least nine known monogenic forms of HI as well as several syndromic forms. Molecular diagnosis allows for prediction of responsiveness to m …
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. ...There are at least …
Congenital neutropenia.
Klein C. Klein C. Hematology Am Soc Hematol Educ Program. 2009:344-50. doi: 10.1182/asheducation-2009.1.344. Hematology Am Soc Hematol Educ Program. 2009. PMID: 20008220 Review.
Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) or lysosomal function (LYST, RAB27A, ROBLD3/p14, AP3B1, VPS13B). ...This review addresses diagnostic and therapeutic aspects of congenita …
Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) …
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P. Tropitzsch A, et al. HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16. HNO. 2023. PMID: 36526931 Review. German.
To date, more than 220 genes for hearing loss have been identified and more than 600 syndromes with hearing loss described. This review article explains the classification of genetic hearing loss into syndromic versus non-syndromic forms and the modes of inhe …
To date, more than 220 genes for hearing loss have been identified and more than 600 syndromes with hearing loss described. This revi …
Left ventricular noncompaction: a distinct cardiomyopathy or a composite anatomical syndrome?
Vaikhanskaya TG, Sivitskaya LN, Kurushko TV, Nizhnikava OG, Levdanskiy OD, Danilenko NG. Vaikhanskaya TG, et al. Kardiologiia. 2018 Dec 14;58(11S):33-45. doi: 10.18087/cardio.2558. Kardiologiia. 2018. PMID: 30625088 Review. Russian.
Clinical cases demonstrating LVNC as a concomitant anatomical syndrome due to monogenic Danone disease, as well as the family cardiomyopathy with the digenic inheritance of two phenotypes (LVNC with DCM) and the unique case of peripartum evolution of the acquired LVNC s …
Clinical cases demonstrating LVNC as a concomitant anatomical syndrome due to monogenic Danone disease, as well as the family cardiom …
Advances in the Genetics of Congenital Ptosis.
Wu P, Ma J, Zhang T, Ma D. Wu P, et al. Ophthalmic Res. 2022;65(2):131-139. doi: 10.1159/000521575. Epub 2021 Dec 30. Ophthalmic Res. 2022. PMID: 34969027 Free article. Review.
Moreover, some forms are due to chromosomal aberrations and mutations and deletions in mitochondrial DNA. Genes involved in simple congenital ptosis (SCP) are ZFHX4 and COL25A1. The clinical aspects of various syndromes involving congenital ptosis are partly …
Moreover, some forms are due to chromosomal aberrations and mutations and deletions in mitochondrial DNA. Genes involved in simple congen …
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr. Buchanan EP, et al. Plast Reconstr Surg. 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. Plast Reconstr Surg. 2014. PMID: 25028828 Review.
Recognize the clinical presentations of commonly seen craniofacial syndromes. 2. Understand the most serious complications associated with each syndrome. 3. ...The most common syndromes associated with this condition include Crouzon, Apert, Pfeiffer, Muenke, …
Recognize the clinical presentations of commonly seen craniofacial syndromes. 2. Understand the most serious complications associated …
Congenital neutropenia syndromes.
Boztug K, Welte K, Zeidler C, Klein C. Boztug K, et al. Immunol Allergy Clin North Am. 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007. Immunol Allergy Clin North Am. 2008. PMID: 18424332 Review.
Congenital neutropenia syndromes comprise a heterogeneous group of inherited disorders. ...Recently, several novel genetic defects were described in patients with congenital neutropenia, shedding light on the pathophysiology of these rare diseases....
Congenital neutropenia syndromes comprise a heterogeneous group of inherited disorders. ...Recently, several novel genetic def …
p63-associated disorders.
Rinne T, Brunner HG, van Bokhoven H. Rinne T, et al. Cell Cycle. 2007 Feb 1;6(3):262-8. doi: 10.4161/cc.6.3.3796. Epub 2007 Feb 3. Cell Cycle. 2007. PMID: 17224651 Free article. Review.
Different combinations of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC) is the most common one. Mutations in p63 can also cause non-syndromic single malformations, such as …
Different combinations of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft …
11,997 results
You have reached the last available page of results. Please see the User Guide for more information.