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

Year Number of Results
1967 1
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1975 4
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1977 6
1978 3
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1980 8
1981 8
1982 2
1983 5
1984 7
1985 8
1986 6
1987 11
1988 8
1989 9
1990 12
1991 11
1992 17
1993 18
1994 21
1995 32
1996 26
1997 29
1998 26
1999 36
2000 32
2001 38
2002 30
2003 36
2004 21
2005 36
2006 38
2007 42
2008 47
2009 46
2010 41
2011 47
2012 55
2013 66
2014 58
2015 56
2016 71
2017 53
2018 60
2019 59
2020 70
2021 84
2022 66
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2024 22

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1,397 results

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Quoted phrase not found in phrase index: "Short stature-craniofacial anomalies-genital hypoplasia syndrome"
Page 1
Use of HINTS in the acute vestibular syndrome. An Overview.
Kattah JC. Kattah JC. Stroke Vasc Neurol. 2018 Jun 23;3(4):190-196. doi: 10.1136/svn-2018-000160. eCollection 2018 Dec. Stroke Vasc Neurol. 2018. PMID: 30637123 Free PMC article. Review.
Twenty-five papers provide a summary of the last 8 years' application of HINTS, the video-HIT added quantitative information to the early clinical observations. Further research will undoubtedly provide specific combination of abnormalities with high degree of lesio …
Twenty-five papers provide a summary of the last 8 years' application of HINTS, the video-HIT added quantitative information to the early cl …
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C. Fabre A, et al. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Orphanet J Rare Dis. 2013. PMID: 23302111 Free PMC article. Review.
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. ...Even with optimal management, most of the children seem to experi …
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or …
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 …
We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professional …
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M. Baglam T, et al. Int J Pediatr Otorhinolaryngol. 2017 Apr;95:91-96. doi: 10.1016/j.ijporl.2017.02.009. Epub 2017 Feb 11. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28576543
AIM: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypo …
AIM: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is cha …
Evaluation of Children and Adolescents with Obesity.
Khadilkar V, Shah N. Khadilkar V, et al. Indian J Pediatr. 2021 Dec;88(12):1214-1221. doi: 10.1007/s12098-021-03893-4. Epub 2021 Aug 18. Indian J Pediatr. 2021. PMID: 34406593 Review.
Overweight and obesity are defined using weight-for-length or -height parameters (World Health Organization 2006 charts) in Indian children less than 5 y and body mass index (Indian Academy of Pediatric 2015 charts) in Indian children aged 5-18 y. Waist circumference is another i …
Overweight and obesity are defined using weight-for-length or -height parameters (World Health Organization 2006 charts) in Indian children …
Acrofacial dysostoses.
Le Merrer M, Cikuli M, Ribier J, Briard ML. Le Merrer M, et al. Am J Med Genet. 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. Am J Med Genet. 1989. PMID: 2801764
A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. ...Her mother has triphalangism of the left thumb and a hypoplastic right thumb with stiff metacarpophalan …
A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyeli …
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B. Brancati F, et al. Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. Orphanet J Rare Dis. 2006. PMID: 17163996 Free PMC article. Review.
To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. …
To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may supp …
Wolf-Hirschhorn (4p-) syndrome.
Battaglia A, Carey JC, Wright TJ. Battaglia A, et al. Adv Pediatr. 2001;48:75-113. Adv Pediatr. 2001. PMID: 11480768 Review.
Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome caused by deletion of the short arm of chromosome 4 (4p-). ...Although thought to affect 1 per 50,000 births, we believe that the syndrome is more common because of the man …
Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome caused by deletion of the short arm of …
Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V. Huber C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791528 Review.
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and short rib-polydactyly type III. Indeed, primary cilia play a vital role in transduc …
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skele …
Gummy Smile and Short Tooth Syndrome--Part 1: Etiopathogenesis, Classification, and Diagnostic Guidelines.
Pavone AF, Ghassemian M, Verardi S. Pavone AF, et al. Compend Contin Educ Dent. 2016 Feb;37(2):102-7; quiz 108-10. Compend Contin Educ Dent. 2016. PMID: 26905089 Review.
The authors propose a complete adult classification of the causes identified for gummy smile (GS) and short tooth syndrome (STS) to ascertain the etiopathogenetic origin(s). Used in combination with the proposed diagnostic procedure, which involves an "outside-in" e …
The authors propose a complete adult classification of the causes identified for gummy smile (GS) and short tooth syndrome (ST …
1,397 results