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Literature DB >> 20979194

Locus heterogeneity and Knobloch syndrome.

Sarah Joyce¹, Louise Tee, Aiysha Abid, Shagufta Khaliq, S Qasim Mehdi, Eamonn R Maher.

Abstract

Entities: Disease Gene

Mesh：

Year: 2010 PMID： 20979194 DOI： 10.1002/ajmg.a.33619

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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Cited

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6 in total

1. Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.

Authors: Lu-Si Zhang; Hai-Bo Li; Jun Zeng; Yan Yang; Chun Ding
Journal: Int J Ophthalmol Date: 2018-06-18 Impact factor: 1.779

Review 2. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Authors: Ahmet Okay Caglayan; Jacob F Baranoski; Fesih Aktar; Wengi Han; Beyhan Tuysuz; Aslan Guzel; Bulent Guclu; Hande Kaymakcalan; Berrin Aktekin; Gozde Tugce Akgumus; Phillip B Murray; Emine Z Erson-Omay; Caner Caglar; Mehmet Bakircioglu; Yildirim Bayezit Sakalar; Ebru Guzel; Nihat Demir; Oguz Tuncer; Senem Senturk; Baris Ekici; Frank J Minja; Nenad Šestan; Katsuhito Yasuno; Kaya Bilguvar; Huseyin Caksen; Murat Gunel
Journal: Pediatr Neurol Date: 2014-09-04 Impact factor: 3.372

6. An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.

Authors: Panfeng Wang; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Yuxi Long; Mengchu Liu; Yongyu Li; Jun Li; Yan Xu; Qingjiong Zhang
Journal: Front Cell Dev Biol Date: 2021-06-25

6 in total

Locus heterogeneity and Knobloch syndrome.

1. Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.

Review 2. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Review 3. Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.

4. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Review 5. Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms.

6. An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.