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Quoted phrase not found in phrase index: "Meckel syndrome, type 2"
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.
Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from pregnancies that continued were liveborn but only two survived the surgery and developed neurological sequence. Overall survival rate was 25% (2/8) with …
Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from pregnancies that con …
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 K …
A novel nonsense variant in the CEP290 gene was reported in first case (Meckel syndrome). The second case shows the importance …
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, …
Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib …
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.
Turkyilmaz A, Geckinli BB, Alavanda C, Arslan Ates E, Buyukbayrak EE, Eren SF, Arman A. Turkyilmaz A, et al. Genet Test Mol Biomarkers. 2021 Jun;25(6):445-451. doi: 10.1089/gtmb.2020.0311. Epub 2021 Jun 4. Genet Test Mol Biomarkers. 2021. PMID: 34096792 Review.
Using exome sequencing analyses a novel homozygous frameshift variant (NM_015631: c.530delA, p.Lys177Argfs*47) was detected at exon 4 of TCTN3 gene in case 1, and a novel homozygous synonymous variant (NM_025114: c.180G>A, p Lys60Lys) was detected at exon 3 of CEP290 gene in c …
Using exome sequencing analyses a novel homozygous frameshift variant (NM_015631: c.530delA, p.Lys177Argfs*47) was detected at exon 4 of TCT …
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. ...As nowadays most patients are detected very …
The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean pre …
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC. Al-Belushi M, et al. J Matern Fetal Neonatal Med. 2016;29(12):2013-6. doi: 10.3109/14767058.2015.1072162. Epub 2015 Aug 26. J Matern Fetal Neonatal Med. 2016. PMID: 26333300
The absence of obvious polycystic kidneys and severe oligohydramnios were prognostic features consistent with a live birth; however, mortality was 100% within a few weeks of delivery. The incidence of 2/1000 live births in the local population is similar to that reported f …
The absence of obvious polycystic kidneys and severe oligohydramnios were prognostic features consistent with a live birth; however, mortali …
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others.
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2007 Jun;46(2):111-20. doi: 10.1016/S1028-4559(07)60004-7. Taiwan J Obstet Gynecol. 2007. PMID: 17638618 Free article. Review.
This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cle …
This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syn …
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. ...We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation …
There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JS …
Meckel Gruber syndrome, A case report.
Aslan K, Külahçı Aslan E, Orhan A, Atalay MA. Aslan K, et al. Organogenesis. 2015;11(2):87-92. doi: 10.1080/15476278.2015.1055431. Epub 2015 Jun 2. Organogenesis. 2015. PMID: 26037304 Free PMC article.
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