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99 results on '"Service de génétique médicale - Unité de génétique clinique [Nantes]"'

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1. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

2. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

3. Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study

4. A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient

5. Exome sequencing identifies the first genetic determinants of sirenomelia in humans

6. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

7. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

8. International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

9. How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patient

10. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

11. Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

12. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

13. First French study relative to preconception genetic testing: 1500 general population participants’ opinion

14. Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

15. Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

16. Whole genome copy number analysis in search of new prognostic biomarkers in first line treatment of mantle cell lymphoma. A study by the LYSA group

17. iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity

18. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

19. Cohorte française de 41 patients porteurs d’une délétion 2q37

20. Description clinique et analyse de corrélation phénotype/génotype dans une cohorte de patients atteints d’une déficience intellectuelle liée à des mutations du gène PAK3

21. Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses

22. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

23. Heating and flow computations of an amorphous polymer in the liquefier of a material extrusion 3D printer

24. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

25. Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

26. Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis

27. RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

28. Clinical management of an atypical dental invagination

29. Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

30. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

31. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

32. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

33. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

34. Population genetic screening: current issues in a European country

35. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

36. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

37. Searching for secondary findings: considering actionability and preserving the right not to know

38. Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

39. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

40. Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

41. Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

42. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

43. Overview of the JET preparation for deuterium-tritium operation with the ITER like-wall

44. Searching for secondary findings: considering actionability and preserving the right not to know

45. Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

46. Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

47. Functional assessment of newly identified SFTPA1 and SFTPA2 mutations in patients with idiopathic interstitial pneumonia (IIP) and lung cancer28th International Congress of the European-Respiratory-Society (ERS)

48. Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

49. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

50. Cognitive profile in Silver-Russell syndrome: a first French study in adults

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