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

Year Number of Results
1964 3
1967 1
1968 1
1969 3
1970 5
1971 4
1972 7
1973 4
1974 4
1975 3
1976 4
1977 5
1978 6
1979 4
1980 6
1981 16
1982 5
1983 10
1984 13
1985 16
1986 8
1987 24
1988 33
1989 31
1990 35
1991 40
1992 39
1993 53
1994 51
1995 54
1996 58
1997 71
1998 69
1999 71
2000 108
2001 125
2002 69
2003 73
2004 82
2005 96
2006 96
2007 79
2008 99
2009 102
2010 103
2011 85
2012 77
2013 111
2014 94
2015 95
2016 99
2017 99
2018 87
2019 83
2020 75
2021 93
2022 71
2023 62
2024 30

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2,743 results

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The following term was not found in PubMed: delay-hydrocephaly-lung
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 recognizable syndrome pattern consists of major and minor anom …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Triple X syndrome: a review of the literature.
Otter M, Schrander-Stumpel CT, Curfs LM. Otter M, et al. Eur J Hum Genet. 2010 Mar;18(3):265-71. doi: 10.1038/ejhg.2009.109. Epub 2009 Jul 1. Eur J Hum Genet. 2010. PMID: 19568271 Free PMC article. Review.
The maternal age seems to be increased. Toddlers with triple X syndrome show delayed language development. The youngest girls show accelerated growth until puberty. EEG abnormalities seem to be rather common. Many girls show motor-coordination problems …
The maternal age seems to be increased. Toddlers with triple X syndrome show delayed language development. The youngest girls …
Syndromic Craniosynostosis.
Wang JC, Nagy L, Demke JC. Wang JC, et al. Facial Plast Surg Clin North Am. 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008. Facial Plast Surg Clin North Am. 2016. PMID: 27712819 Review.
Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such as carpal-pedal anomalies and cognitive function impairment. More than 150 syndromes …
Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformitie …
Resistance to thyrotropin.
Grasberger H, Refetoff S. Grasberger H, et al. Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):183-194. doi: 10.1016/j.beem.2017.03.004. Epub 2017 Mar 30. Best Pract Res Clin Endocrinol Metab. 2017. PMID: 28648507 Free PMC article. Review.
Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia. Conceptually, defects leading to RTSH impair both aspects of TSH-med …
Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropine …
Overgrowth.
Ambler G. Ambler G. Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):519-46. doi: 10.1053/beem.2002.0207. Best Pract Res Clin Endocrinol Metab. 2002. PMID: 12464232 Review.
The role of the growth hormone insulin-like growth factor (GH-IGF) system is explored, including the emerging role of IGF-2 in fetal growth. Increasing understanding of the genetics of overgrowth and short stature syndromes is contributing greatly to b …
The role of the growth hormone insulin-like growth factor (GH-IGF) system is explored, including the emerging role of IGF-2 in …
Epigenetic Causes of Overgrowth Syndromes.
Lui JC, Baron J. Lui JC, et al. J Clin Endocrinol Metab. 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. J Clin Endocrinol Metab. 2024. PMID: 37450557 Free PMC article. Review.
Human overgrowth disorders are characterized by excessive prenatal and/or postnatal growth of various tissues. These disorders often present with tall stature, macrocephaly, and/or abdominal organomegaly and are sometimes associated with additional phenotypic abnormalit …
Human overgrowth disorders are characterized by excessive prenatal and/or postnatal growth of various tissues. These disorders often …
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.
We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professionals in the recognition of this emerging chromosomal syndrome. Terminal deletions of the short arm of chromosome 1 are associated with h …
We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professional …
NGF and BDNF in pediatrics syndromes.
Ferraguti G, Terracina S, Micangeli G, Lucarelli M, Tarani L, Ceccanti M, Spaziani M, D'Orazi V, Petrella C, Fiore M. Ferraguti G, et al. Neurosci Biobehav Rev. 2023 Feb;145:105015. doi: 10.1016/j.neubiorev.2022.105015. Epub 2022 Dec 21. Neurosci Biobehav Rev. 2023. PMID: 36563920 Review.
Neurotrophins (NTs) as nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) play multiple roles in different settings including neuronal development, function and survival in both the peripheral and the central nervous systems from early stages. .. …
Neurotrophins (NTs) as nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) play multiple roles in different settin …
Pituitary stalk interruption syndrome.
Voutetakis A. Voutetakis A. Handb Clin Neurol. 2021;181:9-27. doi: 10.1016/B978-0-12-820683-6.00002-6. Handb Clin Neurol. 2021. PMID: 34238482 Review.
Pituitary stalk interruption syndrome (PSIS) is a distinct developmental defect of the pituitary gland identified by magnetic resonance imaging and characterized by a thin, interrupted, attenuated or absent pituitary stalk, hypoplasia or aplasia of the adenohypophys …
Pituitary stalk interruption syndrome (PSIS) is a distinct developmental defect of the pituitary gland identified by magnetic resonan …
Developmental Disorders Affecting Jaws.
AlZamel G, Odell S, Mupparapu M. AlZamel G, et al. Dent Clin North Am. 2016 Jan;60(1):39-90. doi: 10.1016/j.cden.2015.08.002. Dent Clin North Am. 2016. PMID: 26614949 Review.
Teeth are housed in mandible and maxilla and are known to undergo variations in clinical presentation depending on the degree of abnormality during growth and development. It is essential to identify these variations in normal anatomy so that appropriate trea …
Teeth are housed in mandible and maxilla and are known to undergo variations in clinical presentation depending on the degree of abnormality …
2,743 results