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Quoted phrase not found in phrase index: "Meckel syndrome, type 6"
Page 1
Polydactyly.
Society for Maternal-Fetal Medicine; Rac MWF, McKinney J, Gandhi M. Society for Maternal-Fetal Medicine, et al. Am J Obstet Gynecol. 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. Am J Obstet Gynecol. 2019. PMID: 31787158 No abstract available.
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
Srivastava S, Manisha R, Dwivedi A, Agarwal H, Saxena D, Agrawal V, Mandal K. Srivastava S, et al. Fetal Pediatr Pathol. 2022 Dec;41(6):1041-1051. doi: 10.1080/15513815.2021.2007434. Epub 2021 Nov 25. Fetal Pediatr Pathol. 2022. PMID: 34821546
A novel nonsense variant in the CEP290 gene was reported in first case (Meckel syndrome). The second case shows the importance of fetal exome where the parents were carriers for 2 ciliopathy genes (TMEM138 & SDCCAG8). ...Multiexon deletion in TMEM67 and KIF14 pr …
A novel nonsense variant in the CEP290 gene was reported in first case (Meckel syndrome). The second case shows the importance …
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.
Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene CC2D2A). Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from …
Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic vari …
Hepatorenal fibrocystic diseases in children.
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI. Park E, et al. Pediatr Nephrol. 2016 Jan;31(1):113-9. doi: 10.1007/s00467-015-3185-4. Epub 2015 Aug 11. Pediatr Nephrol. 2016. PMID: 26260382
RESULTS: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13) in 11/36 (30.6 %) and Meckel-Gruber syndrome type 3 (MKS3) in 4/36 (11.1 %). ...
RESULTS: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13) in 11 …
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.
The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100,000 births in a subset of registries with good ascertainment. ...There were 145 (75.9%) terminations of pregn …
The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean pre …
Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm.
Simonini C, Fröschen EM, Nadal J, Strizek B, Berg C, Geipel A, Gembruch U. Simonini C, et al. Arch Gynecol Obstet. 2023 Oct;308(4):1287-1300. doi: 10.1007/s00404-022-06814-8. Epub 2022 Oct 31. Arch Gynecol Obstet. 2023. PMID: 36310336 Free PMC article.
Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%). CONCLUSION: Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the pres …
Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27. …
Congenital talipes equinovarus (clubfoot).
Society for Maternal-Fetal Medicine; McKinney J, Rac MWF, Gandhi M. Society for Maternal-Fetal Medicine, et al. Am J Obstet Gynecol. 2019 Dec;221(6):B10-B12. doi: 10.1016/j.ajog.2019.09.022. Am J Obstet Gynecol. 2019. PMID: 31787157 No abstract available.
Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.
Zhang P, Wu B, Wang Y, Ren Y, Li G, Qan Y, Lei C, Wang H. Zhang P, et al. Reprod Sci. 2022 Aug;29(8):2200-2207. doi: 10.1007/s43032-022-00898-y. Epub 2022 Mar 1. Reprod Sci. 2022. PMID: 35233738
Meckel syndrome (MKS, OMIM:249000) is a severe multiorgan dysplastic lethal ciliopathy with extreme genetic heterogeneity. Defects in RPGRIP1L are the cause of MKS type 5 (MKS5, OMIM:611561). However, only six different variants have been reported in eight MK …
Meckel syndrome (MKS, OMIM:249000) is a severe multiorgan dysplastic lethal ciliopathy with extreme genetic heterogeneity. Def …
16 results