Search Results

Expression of Normal or Mutated X-Linked BCOR Transcripts in OFCD iPSCs.

• Authors : El Ayachi I; Department of Bioscience Research, College of Dentistry, University of Tennessee Health Science Center, Memphis, TN, USA.; Zou XY

Subjects: Heart Septal Defects* ; Induced Pluripotent Stem Cells* ; Microphthalmos*

• Source: Journal of dental research [J Dent Res] 2020 Feb; Vol. 99 (2), pp. 196-203. Date of Electronic Publication: 2019 Nov 27.Publisher: Sage Country of Publication: United States NLM ID: 0354343 Publication Model: Print-Electronic Cited Medium:

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An application of data mining to identify potential risk factors for anophthalmia and microphthalmia.

• Authors : Weber KA; Yang W ...

Subjects: Data Mining*; Anophthalmos/Anophthalmos/Anophthalmos/*epidemiology ; Anophthalmos/Anophthalmos/Anophthalmos/*etiology

• Source: Paediatric and perinatal epidemiology [Paediatr Perinat Epidemiol] 2018 Nov; Vol. 32 (6), pp. 545-555. Date of Electronic Publication: 2018 Oct 09.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8709766 Publication Model: Print-Electronic Cited Medium: Internet

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Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.

• Authors : Khorram D; Marianas Eye Institute, Saipan, Northern Mariana Islands.; Choi M

Subjects: Mutation* ; Pedigree*; Glaucoma, Angle-Closure/Glaucoma, Angle-Closure/Glaucoma, Angle-Closure/*diagnosis Nanophthalmos 1

• Source: Molecular vision [Mol Vis] 2015 Sep 01; Vol. 21, pp. 1017-23. Date of Electronic Publication: 2015 Sep 01 (Print Publication: 2015).Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited

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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.

• Authors : Prasov L; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA. .; Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109, USA. .

Subjects: Eye Diseases, Hereditary/Eye Diseases, Hereditary/Eye Diseases, Hereditary/*genetics ; Frameshift Mutation/Frameshift Mutation/Frameshift Mutation/*genetics ; Hyperopia/Hyperopia/Hyperopia/*genetics Hyperopia, High

• Source: Scientific reports [Sci Rep] 2020 Nov 17; Vol. 10 (1), pp. 19986. Date of Electronic Publication: 2020 Nov 17.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Nutrient intakes in women and risks of anophthalmia and microphthalmia in their offspring.

• Authors : Shaw GM; Carmichael SL ...

Subjects: Dietary Supplements* ; Folic Acid* ; Vitamin A*

• Source: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2007 Oct; Vol. 79 (10), pp. 708-13.Publisher: Wiley Country of Publication: United States NLM ID: 101155107 Publication Model: Print Cited Medium: Print

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Population-based birth defects data in the United States, 2011-2015: A focus on eye and ear defects.

• Authors : Stallings EB; National Birth Defects Prevention Network

Subjects: Anophthalmos/Anophthalmos/Anophthalmos/*epidemiology ; Congenital Microtia/Congenital Microtia/Congenital Microtia/*epidemiology ; Microphthalmos/Microphthalmos/Microphthalmos/*epidemiology

• Source: Birth defects research [Birth Defects Res] 2018 Nov 15; Vol. 110 (19), pp. 1478-1486. Date of Electronic Publication: 2018 Nov 16.Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic

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Ultrathin lens with high power ideal for microphthalmos: plate haptic hydrophobic acrylic lens can be injected through small incision.

• Authors : Talsma, Julia

• Source: Ophthalmology Times. 2004, Vol. 29, Issue 18, pages. 74

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

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

• Source: PLoS ONE. November 22, 2022, Vol. 17 Issue 11, e0268149.

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Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.

• Authors : Nair, K. Saidas; Hmani-Aifa, Mounira; Ali, Zain

• Source: Nature Genetics. June 1, 2011, Vol. 43 Issue 6, p579, 8 p.

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Transcription factor MITF regulates cardiac growth and hypertrophy.

• Authors : Tshori, Sagi; Gilon, Dan; Beeri, Ronen

• Source: Journal of Clinical Investigation. October, 2006, Vol. 116 Issue 10, p2673, 9 p.

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