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

Year Number of Results
1977 1
1978 1
1980 3
1985 2
1993 1
1994 2
1995 1
1996 1
1997 1
1998 2
1999 3
2000 3
2001 6
2002 4
2003 1
2004 1
2005 1
2006 2
2007 3
2008 1
2009 3
2010 3
2011 2
2012 5
2013 2
2014 5
2015 2
2016 4
2017 3
2018 5
2019 2
2020 3
2021 3
2022 1
2023 1
2024 0

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78 results

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Page 1
Costello syndrome: an overview.
Hennekam RC. Hennekam RC. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):42-8. doi: 10.1002/ajmg.c.10019. Am J Med Genet C Semin Med Genet. 2003. PMID: 12561057 Review.
New insights into the development of retinopathy of prematurity--importance of early weight gain.
Hellström A, Ley D, Hansen-Pupp I, Niklasson A, Smith L, Löfqvist C, Hård AL. Hellström A, et al. Acta Paediatr. 2010 Apr;99(4):502-8. doi: 10.1111/j.1651-2227.2009.01568.x. Epub 2009 Oct 29. Acta Paediatr. 2010. PMID: 19878131 Review.
Evidence is accumulating that one of the strongest predictors of retinopathy of prematurity (ROP), in addition to low gestational age, is poor weight gain during the first weeks of life. ...
Evidence is accumulating that one of the strongest predictors of retinopathy of prematurity (ROP), in addition to low gestational age …
Silver-Russell syndrome: genetic basis and molecular genetic testing.
Eggermann T, Begemann M, Binder G, Spengler S. Eggermann T, et al. Orphanet J Rare Dis. 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. Orphanet J Rare Dis. 2010. PMID: 20573229 Free PMC article. Review.
Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by gro …
Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period …
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation.
Rockstroh D, Pfäffle H, Le Duc D, Rößler F, Schlensog-Schuster F, Heiker JT, Kratzsch J, Kiess W, Lemke JR, Abou Jamra R, Pfäffle R. Rockstroh D, et al. Eur J Endocrinol. 2019 Jan 1;180(1):K1-K13. doi: 10.1530/EJE-18-0601. Eur J Endocrinol. 2019. PMID: 30400067
This finding is consistent with the known maternal imprinting of IGF2. 3D protein structure prediction and overexpression studies demonstrated that the p.(Ile66Serfs*93) IGF2 gene variation resulted in an altered protein structure that impaired ligand/receptor binding and …
This finding is consistent with the known maternal imprinting of IGF2. 3D protein structure prediction and overexpression studies dem …
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S, Abi Habib W, Netchine I. Azzi S, et al. Curr Opin Endocrinol Diabetes Obes. 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. Curr Opin Endocrinol Diabetes Obes. 2014. PMID: 24322424 Review.
SUMMARY: These new findings and progress in this field will have direct consequence for diagnostic and predictive tools, risk assessment and genetic counseling for these syndromes....
SUMMARY: These new findings and progress in this field will have direct consequence for diagnostic and predictive tools, risk assessm …
Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.
Giacomozzi C, Martin A, Fernández MC, Gutiérrez M, Iascone M, Domené HM, Dominici FP, Bergadá I, Cangiano B, Persani L, Pennisi PA. Giacomozzi C, et al. J Clin Endocrinol Metab. 2023 May 17;108(6):1355-1369. doi: 10.1210/clinem/dgac738. J Clin Endocrinol Metab. 2023. PMID: 36546343
METHODS: DNA was obtained from the proband and both parents for whole exome sequencing (WES). In silico analysis was performed to predict the impact of the IGF1 variant on IGF1 and insulin receptors (IGF1R and IR) signaling. ...CONCLUSION: We describe a novel IGF1 mutation …
METHODS: DNA was obtained from the proband and both parents for whole exome sequencing (WES). In silico analysis was performed to predict …
Cerebro-costo-mandibular syndrome.
Silverman FN, Strefling AM, Stevenson DK, Lazarus J. Silverman FN, et al. J Pediatr. 1980 Sep;97(3):406-16. doi: 10.1016/s0022-3476(80)80190-9. J Pediatr. 1980. PMID: 7411303
Pulmonary complications incident to lack of thoracic cage support result in poor prognosis for survival....
Pulmonary complications incident to lack of thoracic cage support result in poor prognosis for survival....
Small 4p16.3 deletions: Three additional patients and review of the literature.
Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Bernardini L, et al. Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244530 Review.
The present study highlights a major role of NSD2 gene in the pathogenesis of the WHS main features and predicts that loss-of-function mutations affecting NSD2 gene could result in microcephaly, prenatal and postnatal growth retardation, psychomotor and language delay, and …
The present study highlights a major role of NSD2 gene in the pathogenesis of the WHS main features and predicts that loss-of-functio …
78 results