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Page 1
Silver-Russell syndrome.
Wakeling EL. Wakeling EL. Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24. Arch Dis Child. 2011. PMID: 21349887 Review.
Facial dysmorphism in congenital rubella syndrome.
Chattannavar G, Bansal A, Kekunnaya R. Chattannavar G, et al. J AAPOS. 2024 Feb;28(1):103791. doi: 10.1016/j.jaapos.2023.08.020. Epub 2023 Nov 7. J AAPOS. 2024. PMID: 37939916
CONCLUSIONS: Facial dysmorphism is common in children with CRS, but it was not predictive of the presence of ocular manifestations of CRS in this cohort....
CONCLUSIONS: Facial dysmorphism is common in children with CRS, but it was not predictive of the presence of ocular manifestations of …
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 de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
Chen J, Xia Z, Zhou Y, Ma X, Wang X, Guo Q. Chen J, et al. BMC Med Genomics. 2021 Mar 2;14(1):68. doi: 10.1186/s12920-021-00920-3. BMC Med Genomics. 2021. PMID: 33653342 Free PMC article.
Whole-exome sequencing and Sanger sequencing were used to detect and confirm the variant associated with KBG in this patient, respectively. The pathogenicity of the variant was further predicted by several in silico prediction tools. The patient was diagnosed as KBG …
Whole-exome sequencing and Sanger sequencing were used to detect and confirm the variant associated with KBG in this patient, respectively. …
Phenotype expansion and development in Kosaki overgrowth syndrome.
Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M. Gawliński P, et al. Clin Genet. 2018 Apr;93(4):919-924. doi: 10.1111/cge.13192. Clin Genet. 2018. PMID: 29226947
We therefore propose a set of 18 core KOGS symptoms, with 16 present in early childhood. These results should also impact diagnostic/prognostic scope, intervention and outcome potential for KOGS patients, particularly for developmentally progressive conditions such as scol …
We therefore propose a set of 18 core KOGS symptoms, with 16 present in early childhood. These results should also impact diagnostic/prog …
Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.
Mishra R, Paththinige CS, Sirisena ND, Nanayakkara S, Kariyawasam UGIU, Dissanayake VHW. Mishra R, et al. BMC Pediatr. 2018 Jan 8;18(1):4. doi: 10.1186/s12887-017-0980-z. BMC Pediatr. 2018. PMID: 29310616 Free PMC article. Review.
This report presents a unique case with multiple, complex cardiac defects that have not previously been described in association with a distal breakpoint in 16q. These findings have important diagnostic and prognostic implications....
This report presents a unique case with multiple, complex cardiac defects that have not previously been described in association with a dist …
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 …
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome.
Meyer R, Elbracht M, Opladen T, Eggermann T. Meyer R, et al. Am J Med Genet A. 2020 Nov;182(11):2727-2730. doi: 10.1002/ajmg.a.61833. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32857899
By compiling the clinical data of this new patient with those of the already reported patient, a better prognosis for future patients with MBTPS1 variants can be issued, and clinical management can be adjusted....
By compiling the clinical data of this new patient with those of the already reported patient, a better prognosis for future patients …
20 results