Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
2012 1
2013 2
2017 2
2018 1
2019 1
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Meckel syndrome, type 10"
Page 1
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 …
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. ...
There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JS …
Amniotic fluid laminin and type IV collagen in normal and pathological pregnancies.
Risteli L, von Koskull H, Autio-Harmainen H, Risteli J. Risteli L, et al. Clin Chim Acta. 1985 Apr 30;147(3):283-90. doi: 10.1016/0009-8981(85)90211-6. Clin Chim Acta. 1985. PMID: 2581726
The molecular size of the antigens in amniotic fluid from both normal and pathological pregnancies, when assessed by gel filtration was very large, probably representing intact laminin and type IV collagen. Pathological pregnancies, e.g. cases of Turner syndrome, Meckel …
The molecular size of the antigens in amniotic fluid from both normal and pathological pregnancies, when assessed by gel filtration was very …
Associated malformations among infants with anophthalmia and microphthalmia.
Stoll C, Dott B, Alembik Y, Roth MP. Stoll C, et al. Birth Defects Res A Clin Mol Teratol. 2012 Mar;94(3):147-52. doi: 10.1002/bdra.22877. Epub 2012 Jan 13. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22246853
RESULTS: Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosoma …
RESULTS: Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% ha …
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
Ridnõi K, Šois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Õunap K. Ridnõi K, et al. Mol Genet Genomic Med. 2019 May;7(5):e614. doi: 10.1002/mgg3.614. Epub 2019 Mar 9. Mol Genet Genomic Med. 2019. PMID: 30851085 Free PMC article.
In the first-line diagnosis, we used an next-generation sequencing (NGS)-based large gene panel, but only 10 MKS genes were available on the platform used. In the case of prenatal ultrasound findings that are highly suggestive of MKS and a negative NGS MKS gene panel, WES …
In the first-line diagnosis, we used an next-generation sequencing (NGS)-based large gene panel, but only 10 MKS genes were available …
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
Molin A, Benoist G, Jeanne-Pasquier C, Elkartoufi N, Litzer J, Decamp M, Gruchy N, Durand-Malbruny M, Begorre M, Attie-Bitach T, Leporrier N. Molin A, et al. Eur J Med Genet. 2013 Oct;56(10):580-3. doi: 10.1016/j.ejmg.2013.08.002. Epub 2013 Aug 15. Eur J Med Genet. 2013. PMID: 23954617
We report on a fetus with Meckel syndrome diagnosed during the 21st gestational week, hydrocephalus and bilateral hyperechogenic kidneys were then detected on ultrasonography. ...
We report on a fetus with Meckel syndrome diagnosed during the 21st gestational week, hydrocephalus and bilateral hyperechogen …
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Barny I, Perrault I, Michel C, Soussan M, Goudin N, Rio M, Thomas S, Attié-Bitach T, Hamel C, Dollfus H, Kaplan J, Rozet JM, Gerard X. Barny I, et al. Hum Mol Genet. 2018 Aug 1;27(15):2689-2702. doi: 10.1093/hmg/ddy179. Hum Mol Genet. 2018. PMID: 29771326
CEP290 mutations cause a spectrum of ciliopathies from Leber congenital amaurosis type 10 (LCA10) to embryo-lethal Meckel syndrome (MKS). Using panel-based molecular diagnosis testing for inherited retinal diseases, we identified two individuals with s …
CEP290 mutations cause a spectrum of ciliopathies from Leber congenital amaurosis type 10 (LCA10) to embryo-lethal Meckel …