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1983 1
1984 1
2004 1
2007 1
2008 1
2018 2
2020 1
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2023 1
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Page 1
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
Deletion 22q13.3 syndrome.
Phelan MC. Phelan MC. Orphanet J Rare Dis. 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. Orphanet J Rare Dis. 2008. PMID: 18505557 Free PMC article.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
Additionally, none of the variants described here were reported in control population databases, and most computational predictors suggest that they are deleterious. The most common clinical features of the whole cohort of patients are global developmental delay (98%) and …
Additionally, none of the variants described here were reported in control population databases, and most computational predictors su …
Anthropometric analysis of mandible: an important step for sex determination.
Alias A, Ibrahim A, Abu Bakar SN, Swarhib Shafie M, Das S, Abdullah N, Noor HM, Liao IY, Mohd Nor F. Alias A, et al. Clin Ter. 2018 Sep-Oct;169(5):e217-e223. doi: 10.7417/CT.2018.2082. Clin Ter. 2018. PMID: 30393808 Free article.
The discriminant function equation was formulated based on bigonial breath and condylar height, which were the best predictors. CONCLUSION: In conclusion, the mandible could be distinguished according to the sex. ...
The discriminant function equation was formulated based on bigonial breath and condylar height, which were the best predictors. CONCL …
Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM. de Boer L, et al. Horm Res. 2004;62(4):197-207. doi: 10.1159/000081063. Epub 2004 Sep 24. Horm Res. 2004. PMID: 15452385 Free article.
With logistic regression analysis the best combination of predictive variables was obtained. RESULTS: In the groups of typical, dubious and atypical Sotos syndrome, 81, 36 and 0% of the patients, respectively, showed NSD1 gene alterations. ...CONCLUSIONS: In our patients s …
With logistic regression analysis the best combination of predictive variables was obtained. RESULTS: In the groups of typical, dubio …
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members; Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. Stephen J, et al. Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001. Am J Hum Genet. 2018. PMID: 30526868 Free PMC article.
Global transcriptome profiling using microarray and RNA sequencing revealed several dysregulated genes essential for cell growth, proliferation and survival that are predicted to have an impact on cardiotoxicity hematological system and neurodevelopment. ...
Global transcriptome profiling using microarray and RNA sequencing revealed several dysregulated genes essential for cell growth, proliferat …
Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members.
Shulman SA, Hyams JS, Gunta R, Greenstein RM, Cassidy SB. Shulman SA, et al. Am J Med Genet. 1984 Oct;19(2):325-32. doi: 10.1002/ajmg.1320190215. Am J Med Genet. 1984. PMID: 6439040
Extreme intrafamilial variability has not been reported previously and most affected individuals described in the past have followed a benign course. The pattern of severity in this family suggests the possibility of a maternal factor augmenting the clinical expression in …
Extreme intrafamilial variability has not been reported previously and most affected individuals described in the past have followed a benig …
Intrahepatic "cholestasis facies": is it specific for Alagille syndrome?
Sokol RJ, Heubi JE, Balistreri WF. Sokol RJ, et al. J Pediatr. 1983 Aug;103(2):205-8. doi: 10.1016/s0022-3476(83)80345-x. J Pediatr. 1983. PMID: 6875709
The sensitivity of the facies for diagnosing Alagille syndrome was 54% and 32%, the specificity 44% and 68%, and the predictive value 46% and 47% based on the U.S./Canadian and French groups, respectively. ...
The sensitivity of the facies for diagnosing Alagille syndrome was 54% and 32%, the specificity 44% and 68%, and the predictive value …