176 results on '"Encha-Razavi, F."'
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2. Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): Report of 16 fetal cases
3. Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families
4. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment
5. Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome
6. Molecular Heterogeneity in Fetal Forms of Type II Lissencephaly†
7. Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism
8. Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images
9. Stability of the m.8993T (right arrow) G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome
10. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
11. First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations
12. Neuropathological Changes Distinctive of a Familial form of Fetal Akinesia Sequence (FAS): Pathogenetic Considerations: 232
13. Développement craniofacial : morphogenèse et déterminisme
14. Stuve-Wiedemann syndrome: two additional cases of prenatal diagnosis
15. Expression pattern of the NOGGIN gene during human bone development fits with the clinical spectrum of proximal symphalangism and multiple sysnostosis syndrome but not with spondylocarpotarsal synostosis
16. Comparative expression of the SHH, GLI3 and JAG1 genes in normal and neural tube defects human embryos
17. Agyria/pachygyria is associated with 7q31-qter duplication
18. Familial occurrence of both left and right heart hypoplasia in two different sibships
19. Female-to-male transmission of isolated Periventricular Nodular Heterotopia, cosegregating with the Xq28 region
20. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online
21. GFAPdelta in radial glia and subventricular zone progenitors in the developing human cortex.
22. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects
23. OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment
24. Prevalence and timing of pregnancy termination for brain malformations
25. Embryologie
26. G.P.2.05 Two new foetal cases of syndrome of Walker–Warburg related to LARGE gene
27. Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome
28. De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation
29. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development
30. Prenatal diagnosis and characterization of an analphoid marker chromosome 16
31. Occurrence of left versus right heart hypoplasia in a pair of dizygotic twins
32. Identification of brain malformations: neuropathological approach
33. Features of the developing brain
34. P099: Value of MR imaging in the prenatal diagnosis of clastic cerebellar lesions
35. Arthrogryposis multiplex congenita and Cerebellopontine Ischemic Lesions in Sibs: Recurrence of Prenatal Disruptive Brain Lesions with Different Patterns of Expression?
36. Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome
37. Expression of theSonic Hedgehog gene in human embryos with neural tube defects
38. Expression of thePAX2 gene in human embryos and exclusion in the CHARGE syndrome
39. Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.
40. Congenital hypothalamic hamartoma syndrome: Nosological discussion and minimum diagnostic criteria of a possibly familial form
41. A NEW TYPE OF “LISSENCEPHALY” WITH EXTREME MICRENCEPHALY IMMATURE CORTICAL PLATE AND SEVERE CALCIFICATION
42. G.P.2.04. Molecular study of Lissencephaly type II: 52 Families
43. Expression of the SOX10 gene during human development
44. INTEREST OF THE SKIN BIOPSY IN VASCULAR NEURODEGENERATTVE DISEASES.
45. Avant-propos
46. GFAPdelta in radial glia and subventricular zone progenitors in the developing human cortex
47. Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
48. Delineating septo-optic dysplasia.
49. Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
50. Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.
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