Zobrazeno 1 - 10
of 27
pro vyhledávání: '"J P, Lagarde"'
Autor:
Farnaz Mohammadi, Shakthi Visagan, Sean M. Gross, Luka Karginov, J. C. Lagarde, Laura M. Heiser, Aaron S. Meyer
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-14 (2022)
A tree-based adaptation of a hidden Markov model captures heterogeneity and cell state transitions based on single-cell lineages, enabling the study of intrinsic or drug-induced plasticity in heterogeneous cell populations.
Externí odkaz:
https://doaj.org/article/075379578e48489a8f9d4e2304bdc239
Publikováno v:
Genetic counseling (Geneva, Switzerland). 20(1)
Fibrodysplasia ossificans progressiva (FOP) is a rare but very severe disease, characterised by congenital malformations of the toes and by progressive heterotopic ossification of muscles and joints. Two genes, the noggin (NOG) gene and the activin A
Autor:
G, Lucotte, J P, Lagarde
Publikováno v:
Genetic counseling (Geneva, Switzerland). 18(3)
Publikováno v:
Clinical genetics. 69(5)
Autor:
M L, Kottler, S, Chauvin, N, Lahlou, C E, Harris, C J, Johnston, J P, Lagarde, P, Bouchard, N R, Farid, R, Counis
Publikováno v:
The Journal of clinical endocrinology and metabolism. 85(9)
We describe a woman with complete hypogonadotropic hypogonadism and a new compound heterozygous mutation of the GnRH receptor (GnRHR) gene. A null mutation L314X leading to a partial deletion of the seventh transmembrane domain of the GnRHR is associ
Autor:
A, Lienhardt, M, Garabédian, M, Bai, C, Sinding, Z, Zhang, J P, Lagarde, J, Boulesteix, M, Rigaud, E M, Brown, M L, Kottler
Publikováno v:
The Journal of clinical endocrinology and metabolism. 85(4)
Autosomal dominant hypocalcemia (ADH) can result from heterozygous missense activating mutations of the calcium-sensing receptor (CaSR) gene, a G-protein-coupled receptor playing key roles in mineral ion metabolism. We now describe an ADH kindred of
Publikováno v:
Human mutation. 11(6)
Using DNA sequencing of the coding and exon flanking regions of the low density lipoprotein receptor (LDLR) gene we identified an Alw26 I site in exon 10 by a transition G142A. The alleles are represented by one uncut fragment (A1=108bp) or two fragm
Autor:
M L, Kottler, D, Seret-Bégué, N, Lahlou, M, Assayag, M C, Carré, J P, Lagarde, C, Ajzenberg, S, Christin-Maitre, P, Bouchard, J, Mikol, R, Counis, A, Warnet
Publikováno v:
Clinical endocrinology. 49(1)
Given the central role of the GnRH receptor (GnRHR) in the regulation of the gonadotrophin secretion, it might be implicated directly or indirectly in the pathogenesis of gonadotroph tumours.We determined if GnRHR mRNA was expressed in gonadotroph tu
Publikováno v:
Human biology. 69(4)
Apolipoprotein E genotypes (alleles *2, *3, and *4) have been determined in 70 Aka Pygmies and 470 unrelated African sub-Saharan subjects. Allele frequencies for Pygmies are 5.7% for APOE*2, 53.6% for APOE*3, and 40.7% for APOE*4, and the global prop
Publikováno v:
Annales de biologie clinique. 53(1-2)
A technique to determine epsilon 2, epsilon 3 and epsilon 4 alleles expressed at the apolipoprotein E locus (apoE genotype) is described. The proposed method is convenient for detecting this polymorphism on capillary blood spots. Capillary blood is c