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Quoted phrase not found in phrase index: "Joubert syndrome 28"
Page 1
Follow-up in children with Joubert syndrome.
Steinlin M, Schmid M, Landau K, Boltshauser E. Steinlin M, et al. Neuropediatrics. 1997 Aug;28(4):204-11. doi: 10.1055/s-2007-973701. Neuropediatrics. 1997. PMID: 9309710
Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. ...Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: mystagm …
Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. …
Diagnosis, treatment, and long-term outcomes of fetal hydrocephalus.
Yamasaki M, Nonaka M, Bamba Y, Teramoto C, Ban C, Pooh RK. Yamasaki M, et al. Semin Fetal Neonatal Med. 2012 Dec;17(6):330-5. doi: 10.1016/j.siny.2012.07.004. Epub 2012 Oct 23. Semin Fetal Neonatal Med. 2012. PMID: 23089488
Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, six of holoprosencephaly, three of Dandy-Walker syndrome, one case of Joubert syndrome, 12 of arachnoid cyst, nine of encephalo …
Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, s …
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R. Phelps IG, et al. Genet Med. 2018 Feb;20(2):223-233. doi: 10.1038/gim.2017.94. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771248 Free PMC article.
PurposeNext-generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes associated with a recessive disorder in a given patient. Such variants have been proposed to contribute to digenicity/oligogenicity or "trialleli …
PurposeNext-generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes assoc …
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. Tory K, et al. J Am Soc Nephrol. 2007 May;18(5):1566-75. doi: 10.1681/ASN.2006101164. Epub 2007 Apr 4. J Am Soc Nephrol. 2007. PMID: 17409309
Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardation, hypotonia, and neonatal respiratory dysregulation. ...Furthermore, five patients with NPHP1 mutations carried the AHI1 variant R830W, w …
Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardat …
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM. Romani M, et al. Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19. Hum Genet. 2015. PMID: 25407461 Free PMC article.
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). ...A comparison of mutated vs. non-mutated OFDVI patients showed that preaxi …
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as …
Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
Koyama S, Sato H, Wada M, Kawanami T, Emi M, Kato T. Koyama S, et al. BMC Med Genet. 2017 Mar 27;18(1):37. doi: 10.1186/s12881-017-0399-2. BMC Med Genet. 2017. PMID: 28347285 Free PMC article.
BACKGROUND: Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign. ...A read depth- …
BACKGROUND: Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosom …
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Bayram Y, et al. Am J Med Genet A. 2015 Sep;167A(9):2132-7. doi: 10.1002/ajmg.a.37092. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25846457 Free PMC article.
Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. ...We …
Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished f …