نتائج البحث

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

• Authors : Song Z; Department of Ophthalmology, Shengjing Hospital, China Medical University, Shenyang, 110004, Liaoning, China.; Si N

Subjects: Mutation, Missense*; Cataract/Cataract/Cataract/*genetics ; Chromosome Disorders/Chromosome Disorders/Chromosome Disorders/*genetics Microphthalmia, Isolated, with Cataract 3

• Source: BMC medical genetics [BMC Med Genet] 2018 Oct 19; Vol. 19 (1), pp. 190. Date of Electronic Publication: 2018 Oct 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

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

• Authors : Lin S; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.; Harlalka GV

Subjects: Aldehyde Oxidoreductases/Aldehyde Oxidoreductases/Aldehyde Oxidoreductases/*genetics ; Anophthalmos/Anophthalmos/Anophthalmos/*genetics ; Genes, Recessive/Genes, Recessive/Genes, Recessive/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2018 Sep 10; Vol. 19 (1), pp. 160. Date of Electronic Publication: 2018 Sep 10.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

• Authors : Jimenez NL; Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143-0748 USA.; Flannick J

Subjects: Mutation*; Anophthalmos/Anophthalmos/Anophthalmos/*genetics ; Forkhead Transcription Factors/Forkhead Transcription Factors/Forkhead Transcription Factors/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2011 Dec 28; Vol. 12, pp. 172. Date of Electronic Publication: 2011 Dec 28.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

• Authors : Bardakjian TM; Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA. ; Schneider AS

Subjects: Chromosomes, Human, Pair 16* ; DNA Copy Number Variations* ; Gene Deletion*

• Source: BMC medical genetics [BMC Med Genet] 2009 Dec 16; Vol. 10, pp. 137. Date of Electronic Publication: 2009 Dec 16.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

• Authors : Kumar RA; Centre for Molecular Medicine and Therapeutics, Child & Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 West 28th Ave, Vancouver, V5Z 4H4, Canada. ; Everman DB

Subjects: Mutation*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Receptors, Cytoplasmic and Nuclear/Receptors, Cytoplasmic and Nuclear/Receptors, Cytoplasmic and Nuclear/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2007 Jul 26; Vol. 8, pp. 48. Date of Electronic Publication: 2007 Jul 26.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

Genetic analysis of children with congenital ocular anomalies in three ecological regions of Nepal: a phase II of Nepal pediatric ocular diseases study.

• Authors : Adhikari, Srijana¹ (AUTHOR) ; Thakur, Neelam² (AUTHOR); Shrestha, Ujjowala³ (AUTHOR)

• Source: BMC Medical Genetics. 9/22/2020, Vol. 21 Issue 1, pN.PAG-N.PAG. 1p.

تفاصيل العنوان