Laurence Heidet
Heidet, Laurence
VIAF ID: 301371694 (Personal)
Permalink: http://viaf.org/viaf/301371694
Preferred Forms
- 100 1 _ ‡a HEIDET, LAURENCE.
- 100 1 _ ‡a Heidet, Laurence
- 100 1 _ ‡a Heidet, Laurence
- 100 0 _ ‡a Laurence Heidet
4xx's: Alternate Name Forms (2)
Works
Title | Sources |
---|---|
Acute renal insufficiency in Kawasaki disease | |
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome | |
The alloantigenic sites of alpha3alpha4alpha5(IV) collagen: pathogenic X-linked alport alloantibodies target two accessible conformational epitopes in the alpha5NC1 domain | |
[Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains]. | |
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease | |
Caractérisation de l'effet de mutations MODY sur la fonction de bookmarking de HNF1beta | |
Les ciliopathies rénales | |
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome | |
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease | |
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis | |
Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome | |
Deletions of both alpha 5 | |
Devenir rénal à long terme chez des patients ayant eu un diagnostic anténatal d'uropathie obstructive basse : corrélation avec les paramètres biochimiques urinaires prénataux | |
Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease | |
Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization | |
Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction? | |
[Diffuse leiomyomatosis with genital involvement and Alport syndrome. Report of two cases] | |
Early glomerular filtration defect and severe renal disease in podocin-deficient mice | |
Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2 | |
Evidence of digenic inheritance in Alport syndrome. | |
Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome. | |
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome | |
Hepatocyte nuclear factor 1β controls nephron tubular development | |
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes | |
A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice. | |
Human mutations affect the epigenetic/bookmarking function of HNF1B | |
Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation. | |
Improving mutation screening in familial hematuric nephropathies through next generation sequencing | |
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation | |
In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys | |
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations | |
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans | |
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis | |
The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes | |
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. | |
MODY mutations specifically affect the mitotic chromatin localization of HNF1beta. | |
Murine membranous nephropathy: immunization with α3(IV) collagen fragment induces subepithelial immune complexes and FcγR-independent nephrotic syndrome. | |
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. | |
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria | |
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations | |
La polykystose rénale autosomique dominante de diagnostic anténatal : Etude clinique et moléculaire | |
Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers. | |
Quelle est la place du diagnostic moléculaire dans les maladies rénales prénatales ? | |
The renal lesions of Alport syndrome | |
Repression of CMIP transcription by WT1 is relevant to podocyte health. | |
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects | |
Sequential fetal serum β2-microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction. | |
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. | |
Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females | |
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases | |
Stem cell therapy for Alport syndrome: the hope beyond the hype | |
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia | |
TRAITEMENT DE LA NEPHROSE CORTICO-SENSIBLE DE L'ENFANT PAR LE LEVAMISOLE | |
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. | |
A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation. |