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Quoted phrase not found in phrase index: "Meckel syndrome, type 4"
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 …
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 …
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.
PURPOSE: Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 and 2020 with special focus on renal morphology and biometry, amniotic fluid and extrarenal findings and proposal for an diagnostic algorithm …
PURPOSE: Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 a …
Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome.
Miyamoto S, Nakamura K, Kato M, Nakashima M, Saitsu H. Miyamoto S, et al. Ann Hum Genet. 2023 Jul;87(4):196-202. doi: 10.1111/ahg.12507. Epub 2023 Mar 27. Ann Hum Genet. 2023. PMID: 36970932
Biallelic CC2D2A variants are associated with a wide range of neurodevelopmental disorders including Meckel syndrome. Here we report a Japanese girl with Meckel syndrome harboring a pathogenic deep intronic variant (NM_001378615.1:c.1149+3569A>G) an …
Biallelic CC2D2A variants are associated with a wide range of neurodevelopmental disorders including Meckel syndrome. Here we …
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 prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydact …
The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after p …
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.
We suggest that active ciliary TGL proteins are part of a cilia-specific peptidase system that might remove tubulin modifications or cleave cilia- localized proteins, while the inactive versions are likely to bind peptides and mediate key interactions during ciliogenesis. Second, …
We suggest that active ciliary TGL proteins are part of a cilia-specific peptidase system that might remove tubulin modifications or cleave …
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
Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome. RESULTS: ARPKD was most common in our non-representative sample. ...Sonographically visible kidney cysts occurred in …
Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors …