Marie Claire Gubler

Summary

Country: France

Publications

  1. doi request reprint [Mutations in renin-angiotensin system genes and kidney developmental anomalies]
    Marie Claire Gubler
    INSERM, U574, Hopital Necker Enfants Malades, 75743 Paris, France
    J Soc Biol 203:311-8. 2009
  2. pmc Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development
    Veronique Chauvet
    INSERM U423 and the Département deGénétique et Unité INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Am J Pathol 160:973-83. 2002
  3. ncbi request reprint In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation
    Shao Yu Zhang
    Inserm U574, Universite Rene Descartes, Hopital Necker Enfants Malades, Paris, France
    Kidney Int 66:945-54. 2004
  4. ncbi request reprint Renal tubular dysgenesis
    Marie Claire Gubler
    INSERM, U983, 149 rue de Sevres, 75743, Paris Cedex 15, France
    Pediatr Nephrol 29:51-9. 2014
  5. doi request reprint Renin-angiotensin system in kidney development: renal tubular dysgenesis
    Marie Claire Gubler
    INSERM, U574, Hopital Necker Enfants Malades, Faculté de Médecine Paris Descartes, Universite Paris Descartes, Paris, France
    Kidney Int 77:400-6. 2010
  6. doi request reprint [Renal lesions in patients with Fabry's disease]
    M C Gubler
    Inserm U574, Centre de Référence des Maladies Rénales Héréditaires de l Enfant et de l Adulte MARHEA, Hopital Necker Enfants Malades, 149 rue de Sèvres 75743 Paris cedex 15, France
    Rev Med Interne 31:S220-5. 2010
  7. pmc Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome
    Eduardo Machuca
    INSERM, U983, Hopital Necker Enfants Malades, Paris, France
    J Am Soc Nephrol 21:1209-17. 2010
  8. pmc Podocin localizes in the kidney to the slit diaphragm area
    Séverine Roselli
    INSERM U423, Hopital Necker Enfants Malades, Paris, France
    Am J Pathol 160:131-9. 2002
  9. ncbi request reprint Renal phenotype of the cystinosis mouse model is dependent upon genetic background
    Nathalie Nevo
    INSERM, U574, Hopital Necker Enfants Malades, Paris, France
    Nephrol Dial Transplant 25:1059-66. 2010
  10. pmc In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys
    Laurence Heidet
    Inserm U574, Universite Rene Descartes, Hopital Necker Enfants Malades, Paris, France
    Am J Pathol 163:145-55. 2003

Detail Information

Publications58

  1. doi request reprint [Mutations in renin-angiotensin system genes and kidney developmental anomalies]
    Marie Claire Gubler
    INSERM, U574, Hopital Necker Enfants Malades, 75743 Paris, France
    J Soc Biol 203:311-8. 2009
    ..Moreover, the identification of the disease based on precise histological and immunohistological analysis, and the research of the genetic defect, now allow genetic counseling and early prenatal diagnosis...
  2. pmc Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development
    Veronique Chauvet
    INSERM U423 and the Département deGénétique et Unité INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Am J Pathol 160:973-83. 2002
    ..These data suggest that polycystins could interact with different partners, at least during kidney development...
  3. ncbi request reprint In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation
    Shao Yu Zhang
    Inserm U574, Universite Rene Descartes, Hopital Necker Enfants Malades, Paris, France
    Kidney Int 66:945-54. 2004
    ..Podocin is a protein associated with the slit diaphragm that interacts with nephrin and CD2-associated protein (CD2AP) within lipid rafts...
  4. ncbi request reprint Renal tubular dysgenesis
    Marie Claire Gubler
    INSERM, U983, 149 rue de Sevres, 75743, Paris Cedex 15, France
    Pediatr Nephrol 29:51-9. 2014
    ..Depending on the genetic or secondary cause of the disease, such findings can lead to genetic counselling or the prevention of recurrence in subsequent pregnancies. ..
  5. doi request reprint Renin-angiotensin system in kidney development: renal tubular dysgenesis
    Marie Claire Gubler
    INSERM, U574, Hopital Necker Enfants Malades, Faculté de Médecine Paris Descartes, Universite Paris Descartes, Paris, France
    Kidney Int 77:400-6. 2010
    ..The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis...
  6. doi request reprint [Renal lesions in patients with Fabry's disease]
    M C Gubler
    Inserm U574, Centre de Référence des Maladies Rénales Héréditaires de l Enfant et de l Adulte MARHEA, Hopital Necker Enfants Malades, 149 rue de Sèvres 75743 Paris cedex 15, France
    Rev Med Interne 31:S220-5. 2010
    ..Moreover, histological analysis of renal tissue allows to assess the severity of degenerative changes and to evaluate the beneficial impact of enzyme replacement therapy...
  7. pmc Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome
    Eduardo Machuca
    INSERM, U983, Hopital Necker Enfants Malades, Paris, France
    J Am Soc Nephrol 21:1209-17. 2010
    ..In summary, these data demonstrate that CNS is not a distinct clinical entity in non-Finnish populations but rather a clinically and genetically heterogeneous group of disorders...
  8. pmc Podocin localizes in the kidney to the slit diaphragm area
    Séverine Roselli
    INSERM U423, Hopital Necker Enfants Malades, Paris, France
    Am J Pathol 160:131-9. 2002
    ..Our results suggest that podocin could serve to anchor directly or indirectly components of the slit diaphragm to the cytoskeleton...
  9. ncbi request reprint Renal phenotype of the cystinosis mouse model is dependent upon genetic background
    Nathalie Nevo
    INSERM, U574, Hopital Necker Enfants Malades, Paris, France
    Nephrol Dial Transplant 25:1059-66. 2010
    ..Ctns(-/-) mice of a mixed 129Sv x C57BL/6 genetic background show elevated renal cystine levels; however, proximal tubulopathy or end-stage renal disease is not observed...
  10. pmc In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys
    Laurence Heidet
    Inserm U574, Universite Rene Descartes, Hopital Necker Enfants Malades, Paris, France
    Am J Pathol 163:145-55. 2003
    ..These findings indicate that heterozygous mutations of LMX1B do not appear to dramatically affect the expression of type IV collagen chains, podocin, or CD2AP in NPS patients...
  11. pmc Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome
    Houda Karmous-Benailly
    Département de Génétique et Unité INSERM U 393, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Am J Hum Genet 76:493-504. 2005
    ..We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome...
  12. pmc Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome
    Géraldine Mollet
    INSERM, U574, Hopital Necker Enfants Malades, Paris, France
    J Am Soc Nephrol 20:2181-9. 2009
    ..Finally, we identified novel potential mediators and perturbed molecular pathways, including cellular proliferation, in the course of progression of renal disease leading to glomerulosclerosis, using global gene expression profiling...
  13. pmc Early glomerular filtration defect and severe renal disease in podocin-deficient mice
    Séverine Roselli
    Inserm U574, Hopital Necker Enfants Malades, Universite Rene Descartes, Tour Lavoisier 6ème étage, 75743 Paris, France
    Mol Cell Biol 24:550-60. 2004
    ....
  14. doi request reprint A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes
    Julien Ratelade
    INSERM, U574, Hopital Necker Enfants Malades, Paris, France
    Hum Mol Genet 19:1-15. 2010
    ..These results provide novel clues in our understanding of normal glomerular function and early events involved in glomerulosclerosis...
  15. pmc The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
    Lekbir Baala
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 80:186-94. 2007
    ..No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3...
  16. doi request reprint Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking
    Annie Michaud
    INSERM, U833, Paris, France
    Hum Mol Genet 20:301-11. 2011
    ..This is the first characterization of the mechanisms underlying loss of renin function in RTD...
  17. ncbi request reprint Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes
    Christelle Arrondel
    INSERM U 423, Universite Rene Descartes, Hopital Necker Enfants Malades, Paris, France
    J Am Soc Nephrol 13:65-74. 2002
    ..The two others (R1165L and S96L) are new mutations, although one of them affects a codon (R1165), found elsewhere to be mutated in Sebastian syndrome...
  18. doi request reprint INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy
    Olivia Boyer
    INSERM Unité 983, Service de Nephrologie Pediatrique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France
    N Engl J Med 365:2377-88. 2011
    ..We therefore hypothesized that INF2 may be responsible for cases of Charcot-Marie-Tooth neuropathy associated with FSGS...
  19. pmc The kidney as a reservoir for HIV-1 after renal transplantation
    Guillaume Canaud
    Institut National de la Santé et de la Recherche Médicale U845, Growth and Signaling Research Center, Paris Descartes University, Necker Hospital, Paris, France
    J Am Soc Nephrol 25:407-19. 2014
    ..In conclusion, HIV-1 can infect kidney allografts after transplantation despite undetectable viremia, and this infection might influence graft outcome. ..
  20. pmc A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice
    Laurence Heidet
    Inserm U574, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    Am J Pathol 163:1633-44. 2003
    ..This line of mice, humanized for the alpha3(IV) collagen chain, will also provide a valuable model for studying the pathogenesis of Goodpasture syndrome, an autoimmune disease caused by antibodies against this chain...
  21. doi request reprint Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome
    Olivia Boyer
    INSERM U983, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris, France
    J Med Genet 47:445-52. 2010
    ..In addition, two cases of PLCE1 mutations associated with focal segmental glomerulosclerosis (FSGS) and later NS onset have been reported...
  22. pmc CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
    Soumaya Mougou-Zerelli
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 30:1574-82. 2009
    ..Therefore, and in accordance with the data reported regarding RPGRIP1L, our results indicate phenotype-genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS...
  23. pmc Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes
    Leire Madariaga
    Assistance Publique Hopitaux de Paris, Service de Nephrologie Pediatrique, Hopital Necker Enfants Malades, Paris, France
    Clin J Am Soc Nephrol 8:1179-87. 2013
    ..The most severe forms cause life-threatening renal failure, leading to perinatal death or the need for very early renal replacement therapy...
  24. ncbi request reprint Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system
    Mireille Lacoste
    Institut National de la Sante et de la Recherche Medicale, Unité 574, College de France, Paris, France
    J Am Soc Nephrol 17:2253-63. 2006
    ..The identification of the disease on the basis of precise histologic analysis and the research of the genetic defect now allow genetic counseling and early prenatal diagnosis...
  25. ncbi request reprint Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis
    Olivier Gribouval
    Inserm U574, Hopital Necker Enfants Malades, Universite Rene Descartes, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Nat Genet 37:964-8. 2005
    ..This is the first identification to our knowledge of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development...
  26. ncbi request reprint Improvement of renal function in pediatric heart transplant recipients treated with low-dose calcineurin inhibitor and mycophenolate mofetil
    Olivia Boyer
    Service de Nephrologie Pediatrique, Hopital Necker Enfants Malades, Paris, France
    Transplantation 79:1405-10. 2005
    ..The goal of the study was to investigate the effect of a reduction of calcineurin inhibitor dosage with the concomitant introduction of mycophenolate mofetil on both renal function and cardiac allograft function...
  27. ncbi request reprint Dysregulation of podocyte phenotype in idiopathic collapsing glomerulopathy and HIV-associated nephropathy
    Youxin Yang
    INSERM U 423, Tour Lavoisier, Hopital Necker Enfants Malades, Universite Rene Descartes, 149 rue de Sevres, F 75743 Paris Cedex 15, France
    Nephron 91:416-23. 2002
    ..The aim of this study was to analyze the podocyte phenotype in ICG and HIV-AN...
  28. doi request reprint Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney
    Audrey Putoux
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Pediatr Nephrol 27:7-15. 2012
    ..In particular, kidney disease in BBS is clinically heterogeneous, but is now recognized as a cardinal feature and a major cause of mortality in BBS...
  29. doi request reprint Mutations of NPHP2 and NPHP3 in infantile nephronophthisis
    Kalman Tory
    INSERM, Paris, France
    Kidney Int 75:839-47. 2009
    ..We show that NPHP3 mutations in both infantile and adolescent nephronophthisis point to a common pathophysiological mechanism despite their different clinical presentations...
  30. ncbi request reprint A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS
    Evelyne Huynh Cong
    Inserm U1163, Laboratory of Hereditary Kidney Diseases, Paris, France Paris Descartes Sorbonne Paris Cit University, Imagine Institute, Paris, France
    J Am Soc Nephrol . 2014
    ..Altogether, these data suggest that this homozygous TTC21B p.P209L mutation leads to a novel hereditary kidney disorder with both glomerular and tubulointerstitial damages...
  31. ncbi request reprint [Alport syndrome or progressive hereditary nephritis with hearing loss]
    Marie Claire Gubler
    Inserm U 574, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
    Nephrol Ther 3:113-20. 2007
    ....
  32. ncbi request reprint Respiratory chain deficiency presenting as congenital nephrotic syndrome
    Alice Goldenberg
    Departement de Genetique Medicale, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Pediatr Nephrol 20:465-9. 2005
    ..Mitochondrial RC complex II+V deficiency was identified in the three patients. Based on these observations, we suggest that RC disorders should be considered in patients with congenital NS...
  33. doi request reprint Renal function and histology in children after small bowel transplantation
    Olivia Boyer
    Pediatric Nephrology Unit, Reference Center for Hereditary Renal Diseases in Children and Adolescent MARHEA, Paris, France
    Pediatr Transplant 17:65-72. 2013
    ..Less nephrotoxic immunosuppressive protocols may improve mGFR and should be further considered. The kidney histology helps in designing personalized immunosuppression strategies for patients...
  34. pmc Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
    Lekbir Baala
    Université René Descartes et INSERM U 781, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Am J Hum Genet 81:170-9. 2007
    ..These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS...
  35. doi request reprint Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
    Olivier Gribouval
    INSERM U983, Faculté de Médecine Paris Descartes, Universite Paris Descartes, Paris, France
    Hum Mutat 33:316-26. 2012
    ..The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis...
  36. ncbi request reprint A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia
    Christelle Arrondel
    Inserm U574, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    Kidney Int 65:2030-40. 2004
    ..Finally, we provide the basis for a polymerase chain reaction (PCR) assay that accurately identifies female carriers and allows adequate genetic counseling in this population...
  37. ncbi request reprint The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
    Marion Delous
    Institut National de la Santé et de la Recherche Médicale INSERM U 574, Hopital Necker Enfants Malades, 75015 Paris, France
    Nat Genet 39:875-81. 2007
    ..Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder...
  38. ncbi request reprint PAX2 mutations in fetal renal hypodysplasia
    Jelena Martinovic-Bouriel
    AP HP, Unit of Embryo Fetal Pathology, Department of Histo Embryology and Cytogenetics, Necker Hospital, Paris, France
    Am J Med Genet A 152:830-5. 2010
    ..To the best of our knowledge, our first patient represents an unreported fetal diagnosis of papillorenal syndrome, and another example of the impact of oriented fetopathological examination in genetic counseling of the parents...
  39. ncbi request reprint Recurrence of nephrotic syndrome after transplantation in a mixed population of children and adults: course of glomerular lesions and value of the Columbia classification of histological variants of focal and segmental glomerulosclerosis (FSGS)
    Guillaume Canaud
    Department of Kidney Transplantation, Necker Hospital, 149 rue de Sevres, 75015, Paris, USA
    Nephrol Dial Transplant 25:1321-8. 2010
    ..However, the predictive value of this classification to assess the risk of recurrence after transplantation has not been addressed...
  40. pmc LMX1B mutations cause hereditary FSGS without extrarenal involvement
    Olivia Boyer
    INSERM U983, Hopital Necker Enfants Malades, Paris, France
    J Am Soc Nephrol 24:1216-22. 2013
    ..This highlights the need to include these genes in all diagnostic approaches to FSGS that involve next-generation sequencing. ..
  41. pmc Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis
    Olivia Boyer
    INSERM U983, Tour Lavoisier, 6 étage, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    J Am Soc Nephrol 22:239-45. 2011
    ....
  42. pmc Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis
    Stephanie Cherqui
    INSERM U423, Hopital Necker Enfants Malades, Paris, France
    Mol Cell Biol 22:7622-32. 2002
    ..This animal model will prove an invaluable and unique tool for testing emerging therapeutics for cystinosis...
  43. doi request reprint Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
    Erick Denamur
    Assistance Publique Hopitaux de Paris, Universite Paris Diderot, Hopital Robert Debre, Laboratoire de Biochimie Genetique, INSERM U722, Paris, France
    Kidney Int 77:350-8. 2010
    ..Their absence, however, does not guarantee survival to the neonatal period...
  44. pmc Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome
    Julien Ratelade
    INSERM, U574, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    J Am Soc Nephrol 19:1491-9. 2008
    ..In summary, constitutive inactivation of podocin models the complex interactions between maternal and genetically determined factors on the progression of renal disease as a result of nephrotic syndrome in mice...
  45. ncbi request reprint WT1 and glomerular diseases
    Patrick Niaudet
    Service de Néphrologie Pédiatrique and INSERM U574, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743, Paris, Cedex 15, France
    Pediatr Nephrol 21:1653-60. 2006
    ..The same mutations have been observed in genetically female patients with isolated FSGS. Transmission of the mutation is possible. Frasier mutations have also been reported in children with Denys-Drash syndrome...
  46. ncbi request reprint Cyclosporin therapy in patients with Alport syndrome
    Marina Charbit
    Service de Nephrologie Pediatrique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743, Paris Cedex 15, France
    Pediatr Nephrol 22:57-63. 2007
    ..Based on these results we conclude that while cyclosporin therapy can decrease proteinuria in most patients with AS, it may be associated with nephrotoxicity, thereby precluding its long-term use...
  47. ncbi request reprint Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks
    Catherine Dode
    Laboratoire de Biochimie et Genetique Moleculaire, Hopital Cochin, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Nephrol Dial Transplant 17:1212-7. 2002
    ..In this study we have characterized FMF and TRAPS genotypes in 38 unrelated patients suffering from amyloidosis AA and recurrent inflammatory attacks...
  48. ncbi request reprint Inherited diseases of the glomerular basement membrane
    Marie Claire Gubler
    Institut National de la Sante et de la Recherche Medicale, Inserm U574, Hopital Necker Enfants Malades, Paris F75015, France
    Nat Clin Pract Nephrol 4:24-37. 2008
    ..Therapeutic trials in Alport syndrome nephropathy are underway, following promising preliminary results obtained in rodent and canine models of the disorder...
  49. doi request reprint The renal lesions of Alport syndrome
    Laurence Heidet
    Centre de Référence des Maladies Rénales Héréditaires de l Enfant et de l Adulte and Inserm U574, Hôpital Necker Enfants Malades AP HP, Paris, France
    J Am Soc Nephrol 20:1210-5. 2009
    ..Animal models have provided invaluable tools to study the mechanisms leading to progressive deterioration of the glomerular basement membrane and ultimately to renal failure, and to evaluate benefits of potential targeted therapies...
  50. ncbi request reprint Gonad development in Drash and Frasier syndromes depends on WT1 mutations
    Francis Jaubert
    Service d Anatomie et de Cytologie Pathologiques, Hopital Necker Enfants Malades, 75743 Paris Cedex 15 AP HP, Universite Rene Descartes, France
    Arkh Patol 65:40-4. 2003
    ..A caryotype is mandatory for a correct diagnosis...
  51. ncbi request reprint Podocyte differentiation and hereditary proteinuria/nephrotic syndromes
    Marie Claire Gubler
    INSERM U423, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    J Am Soc Nephrol 14:S22-6. 2003
    ....
  52. ncbi request reprint Can we live without a functional renin-angiotensin system?
    Pierre Corvol
    INSERM, and Collège de France, Paris, France
    Clin Exp Pharmacol Physiol 35:431-3. 2008
    ..In mice, nephrogenesis is completed 2 weeks after birth, whereas in humans it is completed before birth, at 38 weeks of gestation...
  53. ncbi request reprint BBS10 mutations are common in 'Meckel'-type cystic kidneys
    Audrey Putoux
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 47:848-52. 2010
    ..In addition, a complex digenic inheritance has been established in some families. Mutations of the BBS10 gene on chromosome 12q21.2 account for 20% of BBS cases...
  54. ncbi request reprint Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
    Marion Failler
    INSERM, UMR 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France Paris Descartes Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France
    Am J Hum Genet 94:905-14. 2014
    ..In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals. ..
  55. ncbi request reprint Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online
    Rana Khaddour
    INSERM U 781, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    Hum Mutat 28:523-4. 2007
    ..4050 years) ago. We also identified a common MKS3 splice-site mutation, c.1575+1G>A, in five Pakistani sibships of three unrelated families of Mirpuri origin, with an estimated age-of-mutation of 5 generations (125 years)...
  56. ncbi request reprint Diagnosis of Alport syndrome without biopsy?
    Marie Claire Gubler
    INSERM U543, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    Pediatr Nephrol 22:621-5. 2007
    ..At this time, the indication for these different approaches, which are not mutually exclusive but complementary, depends on the patient clinical presentation and family history...
  57. ncbi request reprint Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome
    Karine Dahan
    Department of Pathology, Hopital Necker Enfants Malades, Universite Paris V, Paris, France
    Am J Kidney Dis 49:793-800. 2007
    ..In patients with DDS, small glomeruli were observed...
  58. ncbi request reprint X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study
    Jean Philippe Jais
    Biostatistique et Informatique Médicale, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    J Am Soc Nephrol 14:2603-10. 2003
    ..Risk factors for developing renal failure have been identified: the occurrence and progressive increase in proteinuria, and the development of a hearing defect...