30 results on '"Gyftodimou, Yolanda"'
Search Results
2. CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report
3. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
4. De novo inverted interstitial duplication 8q22.1‐q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features
5. Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss
6. Pure de novo partial trisomy 6p in a girl with craniosynostosis
7. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
8. Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes
9. Cohen Syndrome Resulting From a Novel Large Intragenic COH1 Deletion Segregating in an Isolated Greek Island Population
10. Prenatal diagnosis of glycogen storage disease type IV
11. Cleidocranial dysplasia: a patient with severe dental phenotype
12. A new COL1A1 mutation in a Greek patient with osteogenesis imperfecta: Response to a low-dose protocol of zoledronic acid and two-year follow-up
13. Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
14. 35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome
15. 35-Year Follow-Up of a Case of Ring Chromosome 2:Array-CGH Analysis and Literature Review of the Ring Syndrome
16. A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2
17. Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss
18. 35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome
19. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
20. De novo 393kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features
21. Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population
22. Prenatal diagnosis of glycogen storage disease type IV
23. Complex distal 10q rearrangement in a girl with mild intellectual disability:follow up of the patient and review of the literature of non-acrocentric satellited chromosomes
24. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
25. Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome
26. De novo inverted interstitial duplication 8q22.1‐q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features
27. Cohen syndrome resulting from a novel large intragenicCOH1deletion segregating in an isolated Greek island population
28. Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
29. Cohen syndrome resulting from a novel large intragenic COH1deletion segregating in an isolated Greek island populationHow to cite this article: Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, dAdamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, GiannouliaKarantana A, Renieri A, Zeviani M, Petersen MB. 2008. Cohen syndrome resulting from a novel large intragenic COH1deletion segregating in an isolated Greek island population. Am J Med Genet Part A 146A:2221–2226.
30. De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features.
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