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Quoted phrase not found in phrase index: "Congenital hypotrichosis with juvenile macular dystrophy"
Page 1
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR. Hull S, et al. JAMA Ophthalmol. 2016 Sep 1;134(9):992-1000. doi: 10.1001/jamaophthalmol.2016.2089. JAMA Ophthalmol. 2016. PMID: 27386845
IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair. ...CONCLUSIONS AND RELEVANCE: These results suggest tha …
IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting …
Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.
Saeidian AH, Vahidnezhad H, Youssefian L, Sotudeh S, Sargazi M, Zeinali S, Uitto J. Saeidian AH, et al. Mol Genet Genomic Med. 2019 Nov;7(11):e975. doi: 10.1002/mgg3.975. Epub 2019 Sep 27. Mol Genet Genomic Med. 2019. PMID: 31560841 Free PMC article.
BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by abnormal growth of scalp hair and juvenile macular degeneration leading to blindness. ...This variant was homozygo …
BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterize …
Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
Nasser F, Kempf M, Kurtenbach A, Stöhr H, Weber BHF, Neuhaus C, Rating P, Zrenner E. Nasser F, et al. Ophthalmic Res. 2020;63(2):141-151. doi: 10.1159/000504757. Epub 2020 Jan 10. Ophthalmic Res. 2020. PMID: 31927556
OBJECTIVE: We report on two German siblings diagnosed with congenital hypotrichosis and juvenile macular dystrophy, an extremely rare syndrome affecting both hair growth and visual functions. ...(Arg503His) (chr16:68719191) in the CDH3 gene. CON …
OBJECTIVE: We report on two German siblings diagnosed with congenital hypotrichosis and juvenile macular dyst …
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
Indelman M, Leibu R, Jammal A, Bergman R, Sprecher E. Indelman M, et al. Br J Dermatol. 2005 Sep;153(3):635-8. doi: 10.1111/j.1365-2133.2005.06734.x. Br J Dermatol. 2005. PMID: 16120155
BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse and short scalp hair from birth, followed within a few years by progressive macular degeneration leading to bl …
BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characte …
P-cadherin promotes cell-cell adhesion and counteracts invasion in human melanoma.
Van Marck V, Stove C, Van Den Bossche K, Stove V, Paredes J, Vander Haeghen Y, Bracke M. Van Marck V, et al. Cancer Res. 2005 Oct 1;65(19):8774-83. doi: 10.1158/0008-5472.CAN-04-4414. Cancer Res. 2005. PMID: 16204047
De novo expression of P-cadherin in P-cadherin-negative cell lines (BLM and HMB2) promoted cell-cell contacts and Ca2+-dependent cell-cell aggregation in two- and three-dimensional cultures, whereas it counteracted invasion. These effects were not observed following P-cadh …
De novo expression of P-cadherin in P-cadherin-negative cell lines (BLM and HMB2) promoted cell-cell contacts and Ca2+-dependent cell-cell a …