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Genome-wide screening reveals the genetic basis of mammalian embryonic eye development

• Authors : Justine M. Chee; Louise Lanoue; Dave Clary

Subjects: 0301 basic medicine; Cancer Research; Medical Sciences

• Source: BMC BiolDipòsit Digital de Documents de la UABUniversitat Autònoma de BarcelonaBMC Biology, Vol 21, Iss 1, Pp 1-15 (2023)BMC Biology, vol 21, iss 1

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Maternal cytomegalovirus infection and delayed language development in children at 3 years of age–a nested case-control study in a large population-based pregnancy cohort

• Authors : Regine Barlinn; Susanne G. Dudman; Halvor Rollag

Subjects: Science; Infant, Newborn; Mothers

• Source: PLoS OnePLoS ONE, Vol 17, Iss 12, p e0278623 (2022)PLoS ONE, Vol 17, Iss 12 (2022)PLOS ONE

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

• Authors : Hildegard Nikki Hall; Hemant Bengani; Robert B. Hufnagel

Subjects: 0301 basic medicine; Heterozygote; PAX6 Transcription Factor

• Source: PLoS OnePLoS ONE, Vol 17, Iss 11, p e0268149 (2022)PLoS ONE, Vol 17, Iss 11 (2022)Hall, H N, Bengani, H, Hufnagel, R B, Damante, G, Ansari, M, Marsh, J A, Grimes, G R, von

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TFAP2 paralogs facilitate chromatin access for MITF at pigmentation and cell proliferation genes

• Authors : Colin Kenny; Ramile Dilshat; Hannah E. Seberg

Subjects: Microphthalmia-Associated Transcription Factor; Pigmentation; Genetics

• Source: PLoS GenetPLoS Genetics, Vol 18, Iss 5, p e1010207 (2022)

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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

• Authors : Julia E. Richards; Lev Prasov; Laryssa A. Huryn

Subjects: Adult; Male; 0301 basic medicine

• Source: PLoS GenetPLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)Genomic Ascertainment Cohort 2019, 'Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic

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A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family

• Authors : Zixun Song; Nuo Si; Wei Xiao

Subjects: Adult; Male; 0301 basic medicine

• Source: BMC Med GenetBMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)

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Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

• Authors : Siying Lin; Gaurav V. Harlalka; Abdul Hameed

Subjects: Exome sequencing; Male; 0301 basic medicine

• Source: BMC Med GenetBMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)Lin, S, Harlalka, G V, Hameed, A, Reham, H M, Yasin, M, Muhammad, N, Khan, S, Baple, E L, Crosby, A H & Saleha, S 2018, '

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Requirement of Smad4 from Ocular Surface Ectoderm for Retinal Development

• Authors : Jing Li; Chastain Anderson; Shusheng Wang

Subjects: Male; 0301 basic medicine; Science

• Source: PLoS OnePLoS ONE, Vol 11, Iss 8, p e0159639 (2016)

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Digital Evaluation of Orbital Cyst Associated with Microphthalmos: Characteristics and Their Relationship with Orbital Volume.

• Authors : Cui, Ying^1,2,3; Zhang, Yue^1,2,3; Chang, Qinglin⁴

• Source: PLoS ONE. 6/17/2016, Vol. 11 Issue 6, p1-17. 17p.

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Gene Profiling of Postnatal Mfrprd6 Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs

• Authors : Soundararajan, Ramani; Won, Jungyeon; Stearns, Timothy M

Subjects: 0301 basic medicine; Science; Gene Expression Regulation, Enzymologic

• Source: PLoS OnePLoS ONE, Vol 9, Iss 10, p e110299 (2014)

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