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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 481
2014 510
2015 487
2016 477
2017 541
2018 524
2019 502
2020 495
2021 468
2022 481
2023 431
2024 310

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12,336 results

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The following term was not found in PubMed: neutropenia-myelofibrosis-nephromegaly
Page 1
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 …
[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 …
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 …
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. ...Each has a different set of potential complications requiring a unique approach for surgical management. C …
Recognize the clinical presentations of commonly seen craniofacial syndromes. 2. Understand the most serious complications associated …
Kasabach-merritt syndrome.
Maguiness S, Guenther L. Maguiness S, et al. J Cutan Med Surg. 2002 Jul-Aug;6(4):335-9. doi: 10.1177/120347540200600405. Epub 2002 Apr 15. J Cutan Med Surg. 2002. PMID: 11951132 Review.
BACKGROUND: Kasabach-Merritt syndrome (KMS) is a consumptive coagulopathy associated with the presence of a large vascular lesion. ...There are currently no known treatment guidelines. Kasabach-Merritt syndrome is associated with kaposiform hemangioendothelioma (KHE …
BACKGROUND: Kasabach-Merritt syndrome (KMS) is a consumptive coagulopathy associated with the presence of a large vascular lesion. .. …
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 …
Velocardiofacial syndrome.
Shprintzen RJ. Shprintzen RJ. Otolaryngol Clin North Am. 2000 Dec;33(6):1217-40, vi. doi: 10.1016/s0030-6665(05)70278-4. Otolaryngol Clin North Am. 2000. PMID: 11449784 Review.
Velocardiofacial syndrome is one of the most common multiple-anomaly syndromes in humans. With its many otolaryngologic manifestations and its almost ubiquitous effects on speech, language, hearing, immune dysfunction, and airway problems, velocardiofacial syndro …
Velocardiofacial syndrome is one of the most common multiple-anomaly syndromes in humans. With its many otolaryngologic manife …
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 …
Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A. Jacquinet A, et al. Am J Med Genet A. 2016 Aug;170(8):2141-72. doi: 10.1002/ajmg.a.37775. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27273803 Review.
Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. ...Through the study of animal models, human syndromes, and structural …
Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations …
12,336 results
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