about
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short statureCCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsLoss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defectsMutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male InfertilityX-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutationClinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case reportGenomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial SpokesEuropean Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients.The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.Y-chromosome AZFc structural architecture and relationship to male fertility.The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.Misprocessing of theCFTRprotein leads to mild cystic fibrosis phenotypeMutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.A new large CFTR rearrangement illustrates the importance of searching for complex allelesDetection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counsellingStandardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCDFollow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference CentersLack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary ClearanceCritical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary DyskinesiaExtreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 MutationA Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary DyskinesiaBi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthoodMutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to AsthenozoospermiaA Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation)Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsPrimary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
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name
Marie Legendre
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Marie Legendre
@en
Marie Legendre
@es
Marie Legendre
@nl
Marie Legendre
@sl
type
label
Marie Legendre
@ast
Marie Legendre
@en
Marie Legendre
@es
Marie Legendre
@nl
Marie Legendre
@sl
prefLabel
Marie Legendre
@ast
Marie Legendre
@en
Marie Legendre
@es
Marie Legendre
@nl
Marie Legendre
@sl
P106
P21
P31
P496
0000-0003-2178-0846