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Quoted phrase not found in phrase index: "Isolated microphthalmia 5"
Page 1
Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M. Taha Najim R, et al. Acta Ophthalmol. 2020 Dec;98(8):848-858. doi: 10.1111/aos.14427. Epub 2020 May 21. Acta Ophthalmol. 2020. PMID: 32436650 Free article.
PURPOSE: Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. ...Genetic screening with microarray and whole-exome sequencing targeting 121 A/M-related genes was performed. RESULTS: A/M appeared …
PURPOSE: Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndrom …
Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T. Shinar S, et al. Ultrasound Obstet Gynecol. 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. Ultrasound Obstet Gynecol. 2020. PMID: 32196785 Free PMC article.
The other three confirmed SOD cases had no predictive prenatal or postnatal imaging findings that reliably differentiated them from cases without confirmed SOD. ...CONCLUSIONS: Only a quarter of fetuses with isolated septal agenesis suggestive of SOD will have postn …
The other three confirmed SOD cases had no predictive prenatal or postnatal imaging findings that reliably differentiated them from c …
Idiosyncrasies of scalp melanoma.
Rigual NR, Cheney RT, Iwenofu OH, Li Q, Loree TR, Popat SR, Merzianu M. Rigual NR, et al. Laryngoscope. 2007 Aug;117(8):1354-8. doi: 10.1097/mlg.0b013e31806146e5. Laryngoscope. 2007. PMID: 17592396
Mean follow-up was 35 months. One patient died of disease. One isolated regional recurrence occurred. Sixty percent of PSLN and 92% of NSLN patients were recurrence free at last follow-up. ...CONCLUSIONS: SM is aggressive, as demonstrated by the high rate of SLN metastases …
Mean follow-up was 35 months. One patient died of disease. One isolated regional recurrence occurred. Sixty percent of PSLN and 92% o …
Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium. Tibrewal S, et al. Br J Ophthalmol. 2021 Jul;105(7):897-903. doi: 10.1136/bjophthalmol-2020-316910. Epub 2020 Aug 22. Br J Ophthalmol. 2021. PMID: 32829301
Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into isolated ocular coloboma (CB), coloboma with microcornea (CBMC), colobomatous microphthalmos (CBMO), non-colobomatous microphtha …
Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into is …
Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.
Wen S, Min X, Zhu Y, Zhou X. Wen S, et al. BMC Pediatr. 2022 May 24;22(1):305. doi: 10.1186/s12887-021-02992-7. BMC Pediatr. 2022. PMID: 35610621 Free PMC article.
CASE PRESENTATION: A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (+10.00), severe amblyopia and exotropia, have been genetically diagnosed as Senior-Loken syndrome-5 (SLSN5) and isolated posterior microp …
CASE PRESENTATION: A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (+10.00) …
Microphthalmia-associated transcription factor and tyrosinase as markers of melanoma cells in blood of patients with melanoma.
Samija I, Lukac J, Marić-Brozić J, Kusić Z. Samija I, et al. Croat Med J. 2004 Apr;45(2):142-8. Croat Med J. 2004. PMID: 15103749 Free article.
AIM: To investigate whether analysis of microphthalmia-associated transcription factor (MITF) as an additional marker to tyrosinase in melanoma patients can improve the detection of circulating melanoma cells by reverse-transcription-polymerase chain reaction (RT-PCR). MET …
AIM: To investigate whether analysis of microphthalmia-associated transcription factor (MITF) as an additional marker to tyrosinase i …
Medical Management of Children With Congenital/Infantile Cataract Associated With Microphthalmia, Microcornea, or Persistent Fetal Vasculature.
Daniel MC, Adams GGW, Dahlmann-Noor A. Daniel MC, et al. J Pediatr Ophthalmol Strabismus. 2019 Jan 23;56(1):43-49. doi: 10.3928/1081597X-20180924-01. Epub 2018 Oct 26. J Pediatr Ophthalmol Strabismus. 2019. PMID: 30371912
PURPOSE: To report the surgical outcomes of children with cataract associated with microphthalmia, microcornea, or persistent fetal vasculature (MMP) and children with isolated cataract. ...RESULTS: Median age at surgery was 3.9 months for cataract associated with M …
PURPOSE: To report the surgical outcomes of children with cataract associated with microphthalmia, microcornea, or persistent fetal v …
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.
Khalil A, Karroum SB, Barake R, Dunya G, Abou-Rizk S, Kamar A, Nemer G, Bassim M. Khalil A, et al. BMC Med Genet. 2020 Jan 2;21(1):1. doi: 10.1186/s12881-019-0942-4. BMC Med Genet. 2020. PMID: 31898538 Free PMC article.
BACKGROUND: Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing l …
BACKGROUND: Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-sy …
SOLH, a human homologue of the Drosophila melanogaster small optic lobes gene is a member of the calpain and zinc-finger gene families and maps to human chromosome 16p13.3 near CATM (cataract with microphthalmia).
Kamei M, Webb GC, Young IG, Campbell HD. Kamei M, et al. Genomics. 1998 Jul 15;51(2):197-206. doi: 10.1006/geno.1998.5395. Genomics. 1998. PMID: 9722942
We have isolated human brain cDNA for SOLH, a human homologue of sol. The human SOLH gene consists of 14 exons distributed over more than 45 kb of genomic DNA. ...SOLH is a candidate gene for CATM (hereditary cataracts with microphthalmia), which maps in this region …
We have isolated human brain cDNA for SOLH, a human homologue of sol. The human SOLH gene consists of 14 exons distributed over more …
A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.
Bessant DA, Khaliq S, Hameed A, Anwar K, Mehdi SQ, Payne AM, Bhattacharya SS. Bessant DA, et al. Am J Hum Genet. 1998 May;62(5):1113-6. doi: 10.1086/301843. Am J Hum Genet. 1998. PMID: 9545413 Free PMC article.
Congenital microphthalmia (CMIC) (OMIM 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated CMIC may be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. ...
Congenital microphthalmia (CMIC) (OMIM 309700) may occur in isolation or in association with a variety of systemic malformatio …
18 results