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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
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2015 3
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Page 1
Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.
Sarogni P, Pallotta MM, Musio A. Sarogni P, et al. J Med Genet. 2020 May;57(5):289-295. doi: 10.1136/jmedgenet-2019-106277. Epub 2019 Nov 8. J Med Genet. 2020. PMID: 31704779 Free PMC article. Review.
Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. ...
Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. ...
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The best characterized cohesinopathy is Cornelia de Lange syndrome (CdLS), in which intellectual and growth retardations are the main phenotyp …
Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The best characterized cohesin …
[Lynch syndrome].
Steinke-Lange V, Holinski-Feder E. Steinke-Lange V, et al. Pathologie (Heidelb). 2024 Jul;45(4):290-299. doi: 10.1007/s00292-024-01339-0. Epub 2024 Jun 12. Pathologie (Heidelb). 2024. PMID: 38864870 Review. German.
Patients with Lynch syndrome, one of the most common hereditary tumor predisposition syndromes, harbor an increased risk for a broad spectrum of especially gastrointestinal and gynecological tumors. Causative for the syndrome are variants in DNA mismatch repair gene …
Patients with Lynch syndrome, one of the most common hereditary tumor predisposition syndromes, harbor an increased risk for a broad …
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P. Tropitzsch A, et al. HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16. HNO. 2023. PMID: 36526931 Review. German.
This review article explains the classification of genetic hearing loss into syndromic versus non-syndromic forms and the modes of inheritance involved. Some of the most common syndromes (Usher, Pendred, Jervell-Lange-Nielsen, Waardenburg, branchiootorenal, and Alport s …
This review article explains the classification of genetic hearing loss into syndromic versus non-syndromic forms and the modes of inheritan …
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. Mannini L, et al. Hum Mutat. 2013 Dec;34(12):1589-96. doi: 10.1002/humu.22430. Epub 2013 Sep 16. Hum Mutat. 2013. PMID: 24038889 Free PMC article. Review.
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder. ...Mutations in five genes (NIPBL, SMC1A, SMC3, RAD21, and HDAC8), all regulators or structural components of cohesin, have been identified. Approxi …
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder. ...Mutat …
Etiology and pathogenesis of the cohesinopathies.
Zakari M, Yuen K, Gerton JL. Zakari M, et al. Wiley Interdiscip Rev Dev Biol. 2015 Sep-Oct;4(5):489-504. doi: 10.1002/wdev.190. Epub 2015 Apr 7. Wiley Interdiscip Rev Dev Biol. 2015. PMID: 25847322 Free PMC article. Review.
A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature.
Stacey AW, Sparagna C, Borri M, Rizzo S, Hadjistilianou T. Stacey AW, et al. J AAPOS. 2015 Oct;19(5):474-8. doi: 10.1016/j.jaapos.2015.03.023. J AAPOS. 2015. PMID: 26486036 Review.
Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. ...The low incidence of these two disorders makes it highly unlikely that the connection is random in these 3 cases. The number of patients …
Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. …
Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.
Lee WB, Brandt JD, Mannis MJ, Huang CQ, Rabin GJ. Lee WB, et al. Cornea. 2003 Mar;22(2):178-80. doi: 10.1097/00003226-200303000-00021. Cornea. 2003. PMID: 12605058 Review.
Aniridia and congenital glaucoma were not previously reported with Brachmann-de Lange syndrome. CONCLUSIONS: Ocular surface and anterior segment abnormalities must be considered when examining patients with Brachmann-de Lange syndrome. .. …
Aniridia and congenital glaucoma were not previously reported with Brachmann-de Lange syndrome. CONCLUSIONS: Ocular sur …
[Glucocorticoid induced osteoporosis].
Lange U, Müller-Ladner U. Lange U, et al. Z Rheumatol. 2007 Mar;66(2):129-36; quiz 137-8. doi: 10.1007/s00393-007-0151-y. Z Rheumatol. 2007. PMID: 17334736 Review. German.
Secondary osteoporosis is caused by various non-physiological factors. It affects 5% of all patients with osteoporosis and accounts for 20% of all osteoporotic fractures. Glucocorticoid induced osteoporosis is the most common form of secondary osteoporosis, whereas an endo …
Secondary osteoporosis is caused by various non-physiological factors. It affects 5% of all patients with osteoporosis and accounts f …
[Ophthalmological manifestations of Cornelia de Lange syndrome: Case report and review of the literature].
Avgitidou G, Cursiefen C, Heindl LM. Avgitidou G, et al. Ophthalmologe. 2015 May;112(5):455-8. doi: 10.1007/s00347-014-3171-4. Ophthalmologe. 2015. PMID: 25566737 Review. German.
A 2-year-old boy suffering from Cornelia de Lange syndrome, presented with mucopurulent ocular discharge and epiphora since birth. Irrigation and probing of the nasolacrimal system revealed and successfully treated bilateral nasolacrimal duct obstructi …
A 2-year-old boy suffering from Cornelia de Lange syndrome, presented with mucopurulent ocular discharge and epi …
30 results