47 results on '"Pipiras, Eva"'
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2. Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene
3. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
4. Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
5. Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
6. Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters
7. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
8. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
9. Brief Report: Visual-Spatial Deficit in a 16-Year-Old Girl with Maternally Derived Duplication of Proximal 15q
10. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
11. Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
12. Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
13. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
14. Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B
15. Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q
16. Pre- and Postnatal Phenotype of 6p25 Deletions Involving the FOXC1 Gene
17. Haploinsufficiency of SOX5 at 12p12.1 is Associated with Developmental Delays with Prominent Language Delay, Behavior Problems, and Mild Dysmorphic Features
18. Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
19. New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability
20. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis
21. First cryptic balanced reciprocal translocation mosaicism and familial transmission
22. Expression of fragile sites triggers intrachromosomal mammalian gene amplification and sets boundaries to early amplicons
23. Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases
24. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
25. A framework to identify contributing genes in patients with Phelan-McDermid syndrome
26. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome
27. A framework to identify modifier genes in patients with Phelan-McDermid syndrome
28. Further Evidence for Dlgap2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene
29. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
30. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
31. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
32. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
33. Chromosomal microarray analysis in ocular developmental anomalies
34. Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
35. Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
36. Congenital Macular Dystrophy, Corpus Callosum Agenesis, Hippocampi Hypoplasia – A Novel Neuro-Ophthalmic Syndrome: Case Report
37. Brief Report: Visual–Spatial Deficit in a 16-year-old Girl with Maternally derived Duplication of Proximal 15q
38. Retrospective Diagnosis of Pallister-Killian Syndrome by CGH Array
39. CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature
40. Congenital Macular Dystrophy, Corpus Callosum Agenesis, Hippocampi Hypoplasia - A Novel Neuro-Ophthalmic Syndrome: Case Report.
41. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRNin a patient with arthrogryposisHow to Cite this Article: Tabet AC, Aboura A, Gérard M, Pilorge M, Dupont C, Gadisseux JF, Hervy N, Pipiras E, Delahaye A, Kanafani S, Verloes A, Benzacken B, Betancur C. 2010. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRNin a patient with arthrogryposis. Am J Med Genet Part C Semin Med Genet 152A:1781–1788.
42. Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.
43. Clinical/Scientific Notes.
44. Cerebral small-vessel disease associated with COL4A1and COL4A2gene duplications
45. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
46. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
47. Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
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