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Quoted phrase not found in phrase index: "Meckel syndrome, type 8"
Page 1
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J. Dąbkowska S, et al. Prenat Diagn. 2020 Apr;40(5):612-617. doi: 10.1002/pd.5654. Epub 2020 Feb 12. Prenat Diagn. 2020. PMID: 32003477 Review.
A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosis is poor with high mortality rate and 0% intact survival....
A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosi …
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.
Zhang D, Aravind L. Zhang D, et al. Cell Cycle. 2012 Oct 15;11(20):3861-75. doi: 10.4161/cc.22068. Epub 2012 Sep 14. Cell Cycle. 2012. PMID: 22983010 Free PMC article.
Identification of these TGL and C2 domains aid in the proper reconstruction of the Y-shaped linkers, which are key structures in the transitional zone of cilia, by allowing precise prediction of the multiple membrane-contacting and protein-protein interaction sites in thes …
Identification of these TGL and C2 domains aid in the proper reconstruction of the Y-shaped linkers, which are key structures in the transit …
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Erger F, Brüchle NO, Gembruch U, Zerres K. Erger F, et al. Arch Gynecol Obstet. 2017 Apr;295(4):897-906. doi: 10.1007/s00404-017-4336-6. Epub 2017 Mar 10. Arch Gynecol Obstet. 2017. PMID: 28283827
Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 3.7 vs. 29.8 5.1 GW) or ARPKD (19.6 3.7 vs. 30.2 1.2 GW). ...Pulmonary hypoplasia, oligo/anhydramnios (OAH), and kidney enlargement were associated with a significantly worse neonatal …
Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 3.7 vs. 29.8 5.1 GW) or ARPKD (19.6 3.7 vs. …
Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.
Cakir M, Mungan I, Makuloglu M, Okten A. Cakir M, et al. Indian J Pediatr. 2006 Aug;73(8):731-3. doi: 10.1007/BF02898455. Indian J Pediatr. 2006. PMID: 16936370
We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrole …
We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type a …