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Quoted phrase not found in phrase index: "Orofaciodigital syndrome X"
Page 1
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first re …
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes …
Congenital hand anomaly: etiology and associated malformations.
Goldberg MJ, Bartoshesky LE. Goldberg MJ, et al. Hand Clin. 1985 Aug;1(3):405-15. Hand Clin. 1985. PMID: 3007544 Review.
Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influences the surgical care of the hand anomaly. The natural history of the disorder may be predicted. The associated malformations may affe …
Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influenc …
Clinical spectrum of male patients with OFD1 mutations.
Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T, Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K. Sakakibara N, et al. J Hum Genet. 2019 Jan;64(1):3-9. doi: 10.1038/s10038-018-0532-x. Epub 2018 Nov 6. J Hum Genet. 2019. PMID: 30401917
Oral-facial-digital syndrome type 1 (OFD1) is a ciliopathy characterized by oral, facial, and digital malformations that are often accompanied by polycystic lesion of the kidney and central nervous involvement. ...His uncle (patient 4) carried the same OFD1 variant and sho …
Oral-facial-digital syndrome type 1 (OFD1) is a ciliopathy characterized by oral, facial, and digital malformations that are often ac …
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z. Zhang K, et al. Clin Dysmorphol. 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. Clin Dysmorphol. 2017. PMID: 28505061 Review.
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrom …
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar too …
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM. Feather SA, et al. Hum Mol Genet. 1997 Jul;6(7):1163-7. doi: 10.1093/hmg/6.7.1163. Hum Mol Genet. 1997. PMID: 9215688
Key features of the oral-facial-digital syndrome type 1 (OFD1) include malformations of the face, oral cavity and digits. ...Therefore, the OFD1 gene product appears to have widespread importance in organogenesis and is essential for fetal survival. We have studied two kin …
Key features of the oral-facial-digital syndrome type 1 (OFD1) include malformations of the face, oral cavity and digits. ...Therefor …
Treatment of hypoglossia-hypodactyly syndrome without extremeity anomalies.
Yamada A, Konno N, Imai Y, Saitou C, Kochi S. Yamada A, et al. Plast Reconstr Surg. 2000 Aug;106(2):274-9. doi: 10.1097/00006534-200008000-00004. Plast Reconstr Surg. 2000. PMID: 10946924
Three cases of hypoglossia-hypodactyly syndrome without limb deformities are reported. All exhibited different degrees of tongue hypoplasia, micrognathia, retrognathia with a very narrow space between the left and right halves of the mandible, constricted isthmus, and only …
Three cases of hypoglossia-hypodactyly syndrome without limb deformities are reported. All exhibited different degrees of tongue hypo …
Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome.
Lindeboom JA, Kroon FH, de Vires J, van den Akker HP. Lindeboom JA, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003 Apr;95(4):458-62. doi: 10.1067/moe.2003.35. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003. PMID: 12686930
In 1954, Papillon-Leage and Psaume were the first to describe the clinical characteristics of oral-facial-digital syndrome (OFDS). On the basis of their clinical features and the inheritance pattern, 2 variants were initially distinguished, namely OFDS type I (Papillon-Lea …
In 1954, Papillon-Leage and Psaume were the first to describe the clinical characteristics of oral-facial-digital syndrome (OFDS). On …
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. Webb TR, et al. Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619378 Free PMC article.
In contrast, a variant deep within intron 9 of OFD1 increased the splice site prediction score 4 bp upstream of the variant. Mutations in OFD1 cause the syndromic ciliopathies orofaciodigital syndrome-1, which is male lethal, Simpson-Golabi-Behmel syndrome …
In contrast, a variant deep within intron 9 of OFD1 increased the splice site prediction score 4 bp upstream of the variant. Mutation …
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
Bouman A, Alders M, Oostra RJ, van Leeuwen E, Thuijs N, van der Kevie-Kersemaekers AM, van Maarle M. Bouman A, et al. Am J Med Genet A. 2017 May;173(5):1383-1389. doi: 10.1002/ajmg.a.38179. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371265 Free PMC article.
Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. ...The pregnancy was terminated at 16 weeks of gestation because of poor prognosis. Post-mortem examination of the fetus confirmed sever …
Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. ... …
Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.
Stoll C, Sauvage P. Stoll C, et al. Ann Genet. 2002 Apr-Jun;45(2):59-62. doi: 10.1016/s0003-3995(02)01116-4. Ann Genet. 2002. PMID: 12119212
In 1954, Papillon-Leage and Psaume described a dominant, X-linked condition which they named oro-facio-digital (OFD). This condition was split into at least nine syndromes, the more common being OFD I. We report a girl with OFD I syndrome followed up for 23 years. . …
In 1954, Papillon-Leage and Psaume described a dominant, X-linked condition which they named oro-facio-digital (OFD). This condition was spl …