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Quoted phrase not found in phrase index: "Orofaciodigital syndrome 16"
Page 1
Foetal and neonatal intracranial haemorrhage in term newborn infants: Hacettepe University experience.
Tavil B, Korkmaz A, Bayhan T, Aytaç S, Unal S, Kuskonmaz B, Yigit S, Cetin M, Yurdakök M, Gumruk F. Tavil B, et al. Blood Coagul Fibrinolysis. 2016 Mar;27(2):163-8. doi: 10.1097/MBC.0000000000000403. Blood Coagul Fibrinolysis. 2016. PMID: 26829281
During follow-up, one infant was diagnosed as afibrinogenemia, one diagnosed as infantile spasm, one cystic fibrosis, one orofaciodigital syndrome and the other diagnosed as Friedrich ataxia. ...
During follow-up, one infant was diagnosed as afibrinogenemia, one diagnosed as infantile spasm, one cystic fibrosis, one orofaciodigital …
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 …
Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation.
Ks A, Bansal A, Verma PK, Bhat NK. Ks A, et al. BMJ Case Rep. 2023 Dec 30;16(12):e253086. doi: 10.1136/bcr-2022-253086. BMJ Case Rep. 2023. PMID: 38160027
It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to pro …
It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome …
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C. Saal S, et al. Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8. Clin Genet. 2010. PMID: 19817772
The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. ...Besides, neither genotype-phenotype correlation nor clinical predictive association with renal failure could be evidenced. T …
The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and di …
A mosaic pattern of alopecia in the oral-facial-digital syndrome type I (Papillon-Leage and psaume syndrome).
Del C Boente M, Primc N, Veliche H, Rosales S, Carrero-Valenzuela R, Saleme C, Asial R. Del C Boente M, et al. Pediatr Dermatol. 1999 Sep-Oct;16(5):367-70. doi: 10.1046/j.1525-1470.1999.00095.x. Pediatr Dermatol. 1999. PMID: 10571835
We present an infant girl with oral-facial-digital syndrome type I, who had alopecia following the scalp lines of Blaschko, and we discuss the characteristics of alopecia in this syndrome....
We present an infant girl with oral-facial-digital syndrome type I, who had alopecia following the scalp lines of Blaschko, and we di …
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. ... …
Cerebral abnormalities in the oral-facial-digital syndrome.
Wood BP, Young LW, Townes PL. Wood BP, et al. Pediatr Radiol. 1975 Jun 13;3(3):130-6. doi: 10.1007/BF01006897. Pediatr Radiol. 1975. PMID: 1233426
This is a report of three cases of the oral-facial-digital (OFD) syndrome with accompanying severe cerebral abnormalities. Among 150 reported cases of this syndrome, 16 had accompanying documented cerebral anomalies including porencephalic cysts, agenesis of the cor …
This is a report of three cases of the oral-facial-digital (OFD) syndrome with accompanying severe cerebral abnormalities. Among 150 …