33 results on '"Sol-Church, Katia"'
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2. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp
3. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma
4. A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair
5. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello s
6. An attenuated phenotype of Costello syndrome in three unrelated individuals with aHRASc.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
7. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR
8. A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra-cranial solid tumors: A Children's Oncology Group Phase I Consortium report
9. Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome
10. Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory
11. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis
12. Normative growth charts for individuals with Costello syndrome
13. A novelHRASsubstitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development
14. A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay
15. Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype
16. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
17. Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
18. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
19. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome
20. CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review
21. Living with Costello syndrome: Quality of life issues in older individuals
22. Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome
23. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia
24. Male-to-male transmission of Costello syndrome: G12SHRASgermline mutation inherited from a father with somatic mosaicism
25. Novel surface expression of reticulocalbin 1 on bone endothelial cells and human prostate cancer cells is regulated by TNF-α
26. Costello syndrome associated with novel germlineHRAS mutations: An attenuated phenotype?
27. Longitudinal assessment of cognitive characteristics in Costello syndrome
28. Further delineation of the phenotype resulting fromBRAForMEK1germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
29. Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome
30. Meta‐Analysis of Genome‐Wide Scans Provides Evidence for Sex‐ and Site‐Specific Regulation of Bone Mass
31. Somatic mosaicism for anHRAS mutation causes Costello syndrome
32. HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation
33. Murine Spam1 mRNA: Involvement of AU‐rich elements in the 3′UTR and antisense RNA in its tight post‐transcriptional regulation in spermatids
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