M. Gubler

发表

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

G. Page, G. Germino, S. Somlo, 2005, Journal of Medical Genetics.

Kidney preservation by bone marrow cell transplantation in hereditary nephropathy.

J. Koziol, M. Gubler, S. Cherqui, 2011, Kidney international.

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

R. Salomon, F. Silbermann, C. Antignac, 2016, PLoS genetics.

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

A. Munnich, M. Gonzalès, M. Gubler, 2005, American journal of human genetics.

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.

L. Muller, O. Gribouval, M. Gubler, 2011, Human molecular genetics.

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Corinne Antignac, K. Dahan, O. Gribouval, 2000, Nature Genetics.

Renal phenotype of the cystinosis mouse model is dependent upon genetic background.

C. Antignac, M. Gubler, O. Devuyst, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis.

A. Schedl, A. Clarke, M. Gubler, 2002, Human molecular genetics.

The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases.

M. Gubler, A. Bensman, C. Loirat, 1985, Clinical nephrology.

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.

N. Hastie, C. Antignac, M. Pontoglio, 2010, Human molecular genetics.

The kidney as a reservoir for HIV-1 after renal transplantation.

C. Rouzioux, O. Gribouval, C. Antignac, 2014, Journal of the American Society of Nephrology : JASN.

A novel NPHS2 gene mutation in Turkish children with familial steroid‐resistant nephrotic syndrome

O. Gribouval, C. Antignac, M. Gubler, 2004, Nephrology.

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

O. Gribouval, C. Antignac, G. Benoît, 2010, Journal of the American Society of Nephrology : JASN.

Idiopathic membranoproliferative glomerulonephritis. Morphology and natural history.

M. Gubler, R. Habib, C. Kleinknecht, 1973, Perspectives in nephrology and hypertension.

Mutational analysis of the PLCE 1 gene in steroid-resistant nephrotic syndrome

O. Gribouval, C. Antignac, G. Benoît, 2019 .

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

O. Gribouval, C. Antignac, G. Benoît, 2010, Journal of Medical Genetics.

Renin biosynthesis by human tumoral juxtaglomerular cells. Evidences for a renin precursor.

J. Ménard, M. Gubler, P. Corvol, 1984, Journal of Clinical Investigation.

Release of platelet-activating factor, slow-reacting substance, and vasoactive amines from isolated rat kidneys.

M. Gubler, J. Benveniste, C. Burtin, 1984, Kidney international.

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys.

C. Antignac, C. Antignac, M. Gubler, 2000, The American journal of pathology.

Ontogenesis of angiotensin-I converting enzyme in human kidney.

M. Gubler, F. Mounier, F. Alhenc-Gelas, 1987, Kidney international.

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome.

M. Dallman, G. Mollet, C. Antignac, 2009, Journal of the American Society of Nephrology : JASN.

Chronology of renal scarring in males with Alport syndrome

M. Gubler, C. Kashtan, M. Mauer, 1998, Pediatric Nephrology.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, H. Le Nagard, 2010, Kidney international.

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.

C. Antignac, M. Gubler, G. Deschênes, 2004, Kidney international.

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

J. Oliveira, M. Gubler, E. Svarstad, 2020, Journal of the American Society of Nephrology : JASN.

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

K. Tory, C. Guyot, R. Salomon, 2009, Kidney international.

Meckel–Grüber syndrome: sonography and pathology

C. Garel, A. Laquérriere, M. Gubler, 2006, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

BBS10 mutations are common in ‘Meckel’-type cystic kidneys

R. Salomon, M. Gubler, R. Bouvier, 2010, Journal of Medical Genetics.

Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome.

N. Brousse, K. Dahan, M. Gubler, 2007, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

K. Dahan, C. Antignac, C. Bole-Feysot, 2014, Journal of the American Society of Nephrology : JASN.

Inherited diseases of the glomerular basement membrane

M. Gubler, 2008, Nature Clinical Practice Nephrology.

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

H. Smeets, C. Antignac, M. Gubler, 1994, Nature genetics.

Genetic heterogeneity of Alport syndrome.

A. Chompret, M. Gubler, J. Grünfeld, 1985, Kidney international.

Podocyte and hereditary nephrotic syndromes

M. Gubler, 2007 .

WT1 and glomerular diseases

M. Gubler, P. Niaudet, 2006, Pediatric Nephrology.

Respiratory chain deficiency presenting as congenital nephrotic syndrome

A. Munnich, P. Rustin, A. Rötig, 2005, Pediatric Nephrology.

WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.

M. Gubler, G. Dressler, C. Jeanpierre, 1999, The American journal of pathology.

The significance of pure diffuse mesangial proliferation in idiopathic nephrotic syndrome.

M. Gubler, R. Waldherr, M. Lévy, 1978, Clinical nephrology.

Dense deposit disease: a variant of membranoproliferative glomerulonephritis.

M. Gubler, C. Loirat, M. Lévy, 1975, Kidney international.

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).

R. Salomon, G. Canaud, M. Gubler, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Idiopathic recurrent macroscopic hematuria and mesangial IgA-IgG deposits in children (Berger's disease).

M. Gubler, M. Lévy, R. Habib, 1972, Clinical nephrology.

Oligomeganephronic renal hypoplasia with tapetoretinal degeneration

M. Gubler, H. Dalens, J. Palcoux, 2004, Virchows Archiv A.

Changes in thickness and anionic sites of the glomerular basement membrane after subtotal nephrectomy in the rat.

M. Gubler, F. Terzi, M. Schaeverbeke, 1992, The American journal of pathology.

Twin-to-twin transfusion syndrome. Role of the fetal renin-angiotensin system.

M. Gonzalès, M. Gubler, M. Dommergues, 2000, The American journal of pathology.

Detection of Apoptosis in Kidney Biopsies of Patients with D+ Hemolytic Uremic Syndrome

M. Gubler, L. Monnens, L. Heuvel, 2001, Pediatric Research.

CD 36 deficiency and insulin resistance

A. Benachi, M. Gubler, J. Martinovic, 2001 .

Renal and retinal effects of enalapril and losartan in type 1 diabetes.

Samy Suissa, Michael Mauer, Keith Drummond, 2009, The New England journal of medicine.

Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease.

L. Bostad, M. Gubler, E. Svarstad, 2011, Kidney international.

Early renal changes in hemizygous and heterozygous patients with Fabry's disease.

D. Droz, M. Gubler, J. Grünfeld, 1978, Kidney international.

The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis.

C. Antignac, M. Gubler, B. Thornhill, 2015, American journal of physiology. Renal physiology.

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

H. Kayserili, R. Salomon, C. Antignac, 2014, American journal of human genetics.

Stem cell therapy for Alport syndrome: the hope beyond the hype.

Jie Ding, C. Antignac, H. Anders, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.

C. Antignac, M. Mattei, M. Gubler, 2003, The American journal of pathology.

Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.

C. Antignac, C. Antignac, M. Gubler, 1995, Kidney international.

A Human-Mouse Chimera of the α3α4α5(IV) Collagen Protomer Rescues the Renal Phenotype in Col4a3−/− Alport Mice

C. Antignac, M. Mattei, M. Gubler, 2003 .

Nephrotic syndrome: Genetic testing in steroid-resistant nephrotic syndrome

M. Gubler, 2011, Nature Reviews Nephrology.

Paradoxic Activation of the Renin-Angiotensin System in Twin-Twin Transfusion Syndrome: An Explanation for Cardiovascular Disturbances in the Recipient

N. Fisk, M. Gubler, J. Martinovic, 2005, Pediatric Research.

[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes].

O. Gribouval, C. Antignac, M. Gubler, 2014, Bulletin de l'Academie nationale de medecine.

Chronic renal failure after Puumala virus infection

C. Guyot, M. Gubler, P. Niaudet, 1999, Pediatric Nephrology.

Fetal renin-angiotensin-system blockade syndrome: renal lesions

M. Gubler, C. Arrondel, F. Chavant, 2014, Pediatric Nephrology.

Immunogold studies of monomeric elements from the globular domain (NC1) of type IV collagen in renal basement membranes during experimental diabetes in the rat

M. Gubler, M. Desjardins, J. Wieslander, 1990, Diabetologia.

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation

A. Munnich, N. Boddaert, R. Salomon, 2009, Human mutation.

Persistent anuria, neonatal death, and renal microcystic lesions after prenatal exposure to indomethacin.

M. Gubler, F. Bavoux, A. Delezoide, 1994, American journal of obstetrics and gynecology.

Effects of epidermal growth factor on calf renal glomerular cells in vitro.

M. Gubler, M. Tassin, B. Boyer, 1992, Growth factors.

Renal involvement in juvenile chronic arthritis: clinical and pathologic features.

A. Prieur, M. Gubler, P. Niaudet, 1987, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[Recurrent pleurisy during temporal arteritis].

M. Gubler, J. Turiaf, P. Valere, 1967, Le Poumon et le coeur.

Improvement of Renal Function in Pediatric Heart Transplant Recipients Treated with Low-Dose Calcineurin Inhibitor and Mycophenolate Mofetil

M. Gubler, P. Niaudet, M. Déchaux, 2005, Transplantation.

Dysregulation of Podocyte Phenotype in Idiopathic Collapsing Glomerulopathy and HIV-Associated Nephropathy

M. Gubler, H. Beaufils, Youxin Yang, 2002, Nephron.

Delayed renal failure with extensive mesangiolysis following bone marrow transplantation.

G. Leverger, C. Antignac, M. Gubler, 1989, Kidney international.

Significance of thin glomerular basement membranes in hematuric children.

M. Gubler, L. Noel, R. Habib, 1990, Contributions to nephrology.

Renal insufficiency in infant: side-effect of prenatal exposure to mesalazine?

M. Gubler, J. Colombel, M. Dehennault, 1994, The Lancet.

Irreversible renal failure after indomethacin in steroid-resistant nephrosis.

M. Gubler, M. Broyer, J. Palcoux, 1980, The New England journal of medicine.

Mosaicism of Podocyte Involvement Is Related to Podocyte Injury in Females with Fabry Disease

M. Gubler, E. Svarstad, C. Whitley, 2014, PloS one.

Podocyte differentiation and hereditary proteinuria/nephrotic syndromes.

M. Gubler, 2003, Journal of the American Society of Nephrology : JASN.

Ocular changes in some progressive hereditary nephropathies

M. Gubler, J. Dufier, M. Broyer, 1987, Pediatric Nephrology.

Late symptoms in infantile cystinosis

M. Gubler, M. Broyer, M. Tête, 1987, Pediatric Nephrology.

Ocular changes in long-term evolution of infantile cystinosis.

M. Gubler, J. Dufier, M. Broyer, 1987, Ophthalmic paediatrics and genetics.

Infantile cystinosis: a reappraisal of early and late symptoms.

M. Gubler, M. Broyer, R. Habib, 1981, Advances in nephrology from the Necker Hospital.

Compensatory renal growth after unilateral or subtotal nephrectomy in the ovine fetus

M. Gubler, K. Laborde, L. Behr, 2013, Pediatric Research.

Nephrotic syndrome associated with T‐cell lymphoma

M. Gubler, J. Vernant, C. André, 1981, Cancer.

Extramembranous glomerulonephritis inchildren: Report of 50 cases

M. Gubler, R. Habib, C. Kleinknecht, 1973 .

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

C. Antignac, M. Gubler, B. Knebelmann, 1992, American journal of human genetics.

Development of human fetal kidney in obstructive uropathy: correlations with ultrasonography and urine biochemistry.

M. Gubler, F. Muller, M. Dommergues, 1997, Kidney international.

The renal inflammatory network of nephronophthisis

R. Salomon, F. Silbermann, S. Saunier, 2021, bioRxiv.

Angiotensin I-Converting Enzyme Gln1069Arg Mutation Impairs Trafficking to the Cell Surface Resulting in Selective Denaturation of the C-Domain

S. Kalinin, O. Gribouval, M. Gubler, 2010, PloS one.

Ontogenesis of the glomerular C3b receptor (CR1) in fetal human kidney.

M. Kazatchkine, M. Gubler, M. Appay, 1985, Clinical immunology and immunopathology.

Heterogeneous distribution of monomeric elements from the globular domain (NC1) of type IV collagen in renal basement membranes as revealed by high resolution quantitative immunocytochemistry.

M. Gubler, M. Desjardins, J. Wieslander, 1990, Laboratory investigation; a journal of technical methods and pathology.

A missense mutation in podocin leads to early and severe renal disease in mice.

C. Antignac, C. Antignac, M. Gubler, 2008, Kidney international.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.

M. Gonzalès, M. Gubler, R. Bouvier, 2006, Journal of the American Society of Nephrology : JASN.

Renin-angiotensin system in kidney development: renal tubular dysgenesis.

C. Antignac, M. Gubler, 2010, Kidney international.

Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease.

M. Pontoglio, S. Garbay, M. Gubler, 2020, Cell reports.

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period

O. Gribouval, M. Gubler, J. Bacchetta, 2008, European Journal of Pediatrics.

[Renal artery pathology and its therapeutic indications in the child].

M. Gubler, G. Deschênes, M. Zítek, 1991, Annales de pediatrie.

Structural-functional relationships in Alport syndrome.

M. Gubler, M. Steffes, S. Mauer, 1995, Journal of the American Society of Nephrology : JASN.

Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?

C. Antignac, M. Gubler, P. Thorner, 1998, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Loss of Ultrafiltration and Peritoneal Membrane Alterations in Children on CAPD

M. Gubler, P. Niaudet, M. Broyer, 1985 .

The renal lesions of Alport syndrome.

M. Gubler, L. Heidet, 2009, Journal of the American Society of Nephrology : JASN.

Cyclosporin therapy in patients with Alport syndrome

M. Gubler, J. Grünfeld, P. Niaudet, 2007, Pediatric Nephrology.

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.

E. Bongers, M. Gubler, N. Knoers, 2003, The American journal of pathology.

Alport's syndrome: experience at Hôpital Necker.

J. Foidart, D. Droz, M. Gubler, 1982, Kidney international. Supplement.

Diagnosis of Alport syndrome without biopsy?

M. Gubler, 2007, Pediatric Nephrology.

Clinicopathologic correlations in the nephrotic syndrome.

M. Gubler, M. Lévy, R. Habib, 1979, Paediatrician.

WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.

E. Denamur, R. Veitia, M. Gubler, 2000, Kidney international.

Glomerular basement membrane changes in hereditary glomerular diseases.

M. Gubler, M. Lévy, R. Habib, 1980, Renal physiology.

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.

O. Gribouval, C. Antignac, M. Gubler, 2004, Kidney international.

Idiopathic membranoproliferative glomerulonephritis in children. Report of 105 cases.

M. Gubler, M. Lévy, R. Habib, 1973, Clinical Nephrology.

Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis

M. Gubler, L. P. Van den Heuvel, L. Heuvel, 2001, Pediatric Nephrology.

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes

Y. Ville, S. Saunier, M. Gubler, 2021, Pediatric Nephrology.

Immunohistologic findings in Alport syndrome.

M. Gubler, C. Kashtan, M. Kleppel, 1996, Contributions to nephrology.

Familial juvenile nephronophthisis

C. Antignac, S. Saunier, M. Gubler, 1998, Journal of Molecular Medicine.

Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation

A. Schedl, M. Gubler, A. Hammes, 2001, Cell.

Congenital anomalies in glutaric aciduria type 2.

M. Gubler, J. Frézal, J. Saudubray, 1984, The Journal of pediatrics.

Nail-patella syndrome. Overview on clinical and molecular findings

E. Bongers, M. Gubler, N. Knoers, 2002, Pediatric Nephrology.

Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis

C. Antignac, M. Gubler, G. Hamard, 2002, Molecular and Cellular Biology.

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.

Jinzhong Zhang, C. Antignac, M. Gubler, 2019, Kidney international.

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Marc Fellous, Ken McElreavey, M. Gubler, 1997, Nature Genetics.

Deletion of CD151 results in a strain-dependent glomerular disease due to severe alterations of the glomerular basement membrane.

L. Ashman, M. Gubler, S. Roselli, 2008, The American journal of pathology.

Renal allografts in cystinosis and mesangial demography.

M. Gubler, M. Broyer, R. Habib, 1989, Clinical nephrology.

Gonad development in Drash and Frasier syndromes depends on WT1 mutations.

M. Gubler, M. Fellous, C. Jeanpierre, 2003, Arkhiv patologii.

Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome

A. Munnich, A. Rötig, M. Gubler, 1994, Pediatric Nephrology.

Valproic acid: a possible cause of proximal tubular renal syndrome.

M. Gubler, G. Lenoir, J. Pérignon, 1981, The Journal of pediatrics.

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Corinne Antignac, Bertrand Knebelmann, C. Antignac, 2002, Journal of the American Society of Nephrology : JASN.

Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia)

M. Gubler, M. Gautier, M. Odiévre, 1987, Pediatric Nephrology.

NPHS 2 , encoding the glomerular protein podocin , is mutated in autosomal recessive steroid-resistant nephrotic syndrome

K. Dahan, O. Gribouval, C. Antignac, 2000 .

Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population

O. Gribouval, C. Antignac, M. Gubler, 1996, Pediatric Nephrology.

Cystinosin regulates kidney inflammation through its interaction with galectin-3

Jinzhong Zhang, C. Antignac, M. Gubler, 2018, bioRxiv.

Immunolocalization of cystinosin, the protein defective in cystinosis.

C. Antignac, A. Woolf, M. Gubler, 2002, Journal of the American Society of Nephrology : JASN.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children

C. Antignac, M. Gubler, A. Pawtowski, 2011, Pediatric Nephrology.

LMX1B mutations cause hereditary FSGS without extrarenal involvement.

J. Szustakowski, B. Linghu, E. Oakeley, 2013, Journal of the American Society of Nephrology : JASN.

WT1-Associated Disorders

M. Gubler, C. Jeanpierre, 2003 .

Podocin localizes in the kidney to the slit diaphragm area.

O. Gribouval, C. Antignac, M. Gubler, 2002, The American journal of pathology.

Alport's syndrome. A report of 58 cases and a review of the literature.

M. Gubler, M. Lévy, M. Broyer, 1981, The American journal of medicine.

Cilia‐localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney

R. Nitschke, M. Boerries, H. Busch, 2018, The EMBO journal.

Hepatocyte nuclear factor 1β controls nephron tubular development

T. Noda, M. Pontoglio, S. Garbay, 2013, Development.

Clinical and pathophysiological aspects of immune complex glomerulonephritis associated with Entamoeba histolytica abscess of the liver.

M. Gubler, Marc Lecuit, F. Martinez, 1997, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Fetal toxic effects and angiotensin-II-receptor antagonists

A. Benachi, M. Gubler, J. Martinovic, 2001, The Lancet.

Immunopathology of membranoproliferative glomerulonephritis with subendothelial deposits (Type I MPGN)

M. Gubler, M. Lévy, R. Habib, 1978, Clinical immunology and immunopathology.

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

R. Bodmer, A. Afenjar, G. Mollet, 2018, PLoS genetics.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

G. Mollet, O. Gribouval, F. Silbermann, 2014, Journal of the American Society of Nephrology : JASN.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Colin A. Johnson, Nathalie Boddaert, Sophie Saunier, 2007, Nature Genetics.

Fetal serum ß2‐microglobulin and cystatin C in the prediction of post‐natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys

M. Gubler, F. Audibert, F. Muller, 2004, Prenatal diagnosis.

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Colin A. Johnson, A. Munnich, E. Génin, 2007, American journal of human genetics.

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Colin A. Johnson, A. Munnich, N. Boddaert, 2007, American journal of human genetics.

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.

E. Denamur, C. Junien, M. Gubler, 1998, American journal of human genetics.

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

H. Smeets, C. Antignac, M. Gubler, 1994, Nature Genetics.

Congenital Erythropoietic Porphyria: Prenatal Diagnosis and Autopsy Findings in Two Sibling Fetuses

M. Gubler, Y. Nordmann, F. Muller, 2001, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

M. Gubler, J. Martinovic, T. Attié-Bitach, 2010, Pediatric Nephrology.

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

N. Boddaert, G. Mollet, O. Gribouval, 2014, American Journal of Human Genetics.

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Corinne Antignac, Raymonde Bouvier, O. Gribouval, 2005, Nature Genetics.

Pathogenesis of Twin-Twin Transfusion Syndrome: The Renin-Angiotensin System Hypothesis

M. Gubler, D. Joly, F. Muller, 2001, Fetal Diagnosis and Therapy.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation

Colin A. Johnson, Arnold Munnich, Fiona Macdonald, 2007, Human mutation.

Renal tubular dysgenesis

M. Gubler, 2013, Pediatric Nephrology.

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.

G. Mollet, O. Gribouval, C. Antignac, 2011, Journal of the American Society of Nephrology : JASN.

Early Glomerular Filtration Defect and Severe Renal Disease in Podocin-Deficient Mice

M. Kretzler, C. Antignac, M. Gubler, 2004, Molecular and Cellular Biology.

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

C. Antignac, C. Antignac, M. Gubler, 1996, American journal of human genetics.

Alport syndrome: a genetic study of 31 families

M. Sanak, C. Bonaiti-Pellié, M. Gubler, 1992, Human Genetics.

Spatiotemporal expression of molecules associated with junctional complexes during the in vivo maturation of renal podocytes.

M. Gubler, M. Tassin, B. Boyer, 1994, The International journal of developmental biology.

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renalhepatic-pancreatic dysplasia.

C. Antignac, S. Saunier, M. Gubler, 2020 .

Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

C. Antignac, S. Saunier, M. Gubler, 2020, Kidney international.

Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome.

M. Kretzler, G. Mollet, C. Antignac, 2008, Journal of the American Society of Nephrology : JASN.

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

John Hwa, Véronique Baudouin, Murim Choi, 2013, Nature Genetics.

WT1, a multiform protein. Contribution of genetic models to the understanding of its various functions.

M. Gubler, 2002, Journal of the American Society of Nephrology : JASN.

Hemolytic uremic syndrome in patients with Behçet's disease treated with cyclosporin A: report of 2 cases.

M. Gubler, G. Chomette, B. Wechsler, 1990, Clinical nephrology.

Diffuse arterial calcified elastopathy--a new cause of renovascular hypertension in children.

C. Antignac, M. Gubler, L. Garel, 1985, The International journal of pediatric nephrology.

Morphology and serum complement levels in membranoproliferative glomerulonephritis.

M. Gubler, C. Loirat, M. Lévy, 1974, Advances in nephrology from the Necker Hospital.

Meckel‐Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy

R. Berkowitz, M. Gubler, L. Mandelbrot, 1994, Prenatal diagnosis.

Effect of various protein diets on growth, renal function, and survival of uremic rats.

M. Gubler, I. Salusky, M. Broyer, 1979, Kidney international.

Nail patella syndrome

M. Gubler, L. Heidet, 2018 .

Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy.

M. Gubler, M. Lévy, 1993, American journal of medical genetics.

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.

H. Smeets, J. Jais, M. Sanak, 2003, Journal of the American Society of Nephrology : JASN.

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

H. Smeets, J. Jais, M. Sanak, 2000, Journal of the American Society of Nephrology : JASN.

Renal function and histology in children after small bowel transplantation

M. Gubler, O. Goulet, P. Niaudet, 2013, Pediatric transplantation.

Extramembranous glomerulonephritis in children: report of 50 cases.

M. Gubler, R. Habib, C. Kleinknecht, 1973, The Journal of pediatrics.

PAX2 mutations in oligomeganephronia.

S. Lyonnet, M. Gubler, M. Vekemans, 2001, Kidney international.

De novo membranous glomerulonephritis in renal allografts in children.

C. Antignac, M. Gubler, M. Broyer, 1988, Clinical nephrology.

H deficiency in two brothers with atypical dense intramembranous deposit disease.

M. Gubler, P. Niaudet, M. Lévy, 1986, Kidney international.

Oligomeganephronic renal hypoplasia.

M. Gubler, C. Rica., M. Broyer, 1997, Advances in nephrology from the Necker Hospital.

Renal amyloidosis in juvenile chronic arthritis: evolution after chlorambucil treatment

A. Prieur, M. Gubler, G. Deschênes, 1990, Pediatric Nephrology.

Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome.

C. Antignac, C. Antignac, M. Gubler, 1993, Advances in nephrology from the Necker Hospital.

[Value of cyclosporine in the treatment of the recurrence of nephrosis after renal transplantation].

D. Droz, M. Gubler, B. Ranchin, 1996, Nephrologie.

Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.

B. Hazenberg, M. Gubler, C. Dodé, 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Dense deposit disease: long term follow-up of three cases of recurrence after transplantation.

M. Gubler, M. Legrain, H. Beaufils, 1977, Clinical nephrology.

FAMILIAL NEPHROSIS (FN)

M. Gubler, G. Lenoir, M. Broyer, 1980, Pediatric Research.

Genetic, clinical, and morphologic heterogeneity in Alport's syndrome.

C. Antignac, M. Gubler, B. Knebelmann, 1993, Advances in nephrology from the Necker Hospital.

Deletions of both α5(IV) and α6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

C. Guyot, K. Dahan, K. Leppig, 1995 .

[Congenital or childhood nephrotic syndrome with diffuse mesangial sclerosis].

C. Antignac, M. Gubler, C. Loirat, 1990, Annales de pediatrie.

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

G. Mollet, O. Gribouval, C. Antignac, 2011, The New England journal of medicine.

The dotted corticomedullary junction: a sonographic indicator of small-vessel disease in hypertensive children.

M. Gubler, L. Garel, J. Sauvegrain, 1984, Radiology.

Alport’s Syndrome: Natural History and Ultrastructural Lesions of Glomerular and Tubular Basement Membranes

M. Gubler, R. Habib, C. Monnier, 1976 .

[Prenatal diagnosis of renal malformations and diseases].

M. Gubler, M. Dommergues, F. Narcy, 1997, Annales de pathologie.

Renal abnormalities in the Bardet-Biedl syndrome.

M. Gubler, M. Lévy, M. Broyer, 1982, The International journal of pediatric nephrology.

Risk of primary disease recurrence in pediatric renal transplantation.

D. Droz, M. Gubler, P. Niaudet, 1999, Transplantation proceedings.

Renal amyloidosis in children: an ultrastructural study.

M. Gubler, C. Naizot, 1987, Applied pathology.

Targets of alloantibodies in Alport anti-glomerular basement membrane disease after renal transplantation.

M. Gubler, C. Kashtan, A. Turner, 1998, Kidney international.

Variants of Alport's syndrome

M. Gubler, J. Grünfeld, L. Noel, 1987, Pediatric Nephrology.

Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development.

G. Germino, M. Gubler, Yiqiang Cai, 2002, The American journal of pathology.

Very early twin-to-twin transfusion syndrome and discordant activation of the renin-angiotensin system.

M. Gubler, F. Guimiot, M. Dommergues, 2009, Placenta.

Signaling pathways predisposing to chronic kidney disease progression.

M. Pontoglio, S. Germano, S. Garbay, 2020, JCI insight.

Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?

M. Gubler, J. Alessandri, D. Ramful, 2009, Clinical dysmorphology.

Collagen type III glomerulopathy: a new type of hereditary nephropathy

M. Gubler, A. Bensman, J. Leroy, 1993, Pediatric Nephrology.

Renal failure from mitochondrial cytopathies.

A. Allegra, M. Gubler, M. Buemi, 1997, Nephron.

Absence of cell surface expression of human ACE leads to perinatal death

O. Gribouval, K. Acharya, M. Gubler, 2013, Human molecular genetics.

Crescentic glomerulonephritis in hyper IgD syndrome

M. Gubler, B. Dussol, M. Tsimaratos, 1999, Pediatric Nephrology.

PAX2 mutations in fetal renal hypodysplasia

A. Benachi, R. Salomon, C. Antignac, 2010, American journal of medical genetics. Part A.

Mutations of NPHP2 and NPHP3 in infantile

C. Guyot, R. Salomon, C. Antignac, 2009 .

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

J. Szustakowski, J. Sahel, T. Bouwmeester, 2015, Nature Communications.

[Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains].

M. Gubler, L. Heidet, 2013, Nephrologie & therapeutique.

[Mutations in renin-angiotensin system genes and kidney developmental anomalies].

O. Gribouval, C. Antignac, M. Gubler, 2009, Journal de la Societe de biologie.

Deleterious effects of inhibition of the renin-angiotensin system in neonatal rats

M. Gubler, M. Déchaux, M. Charbit, 1995, Pediatric Nephrology.

Renal failure in the neonate associated with in utero exposure to non-steroidal anti-inflammatory agents

M. Gubler, B. V. D. Heijden, 2004, Pediatric Nephrology.

Long-term (15-25 years) outcome of childhood hemolytic-uremic syndrome.

M. Gubler, M. Broyer, R. Habib, 1996, Clinical nephrology.

Caroli disease , bilateral diffuse cystic renal dysplasia , situs inversus , postaxial polydactyly , and preauricular fistulas : a ciliopathy caused by a homozygous NPHP 3 mutation CALINESCU-TULEASCA

M. Gubler, A. Rougemont, P. Majno, 2018 .

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation

M. Gubler, A. Rougemont, P. Majno, 2013, European Journal of Pediatrics.

Literature Abstracts

G. Mollet, M. Gubler, L. Forestier, 2001, Pediatric Nephrology.

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

A. Munnich, R. Salomon, C. Antignac, 2000, European Journal of Human Genetics.

[Fabry's disease in ophthalmology (author's transl)].

M. Gubler, G. Lenoir, J. Dufier, 1980, Journal francais d'ophtalmologie.

Adverse effect of proteins on remnant kidney: dissociation from that of other nutrients.

M. Gubler, M. Broyer, D. Laouari, 1983, Kidney international. Supplement.

Cystic Gene Dosage Influences Kidney Lesions After Nephron Reduction

H. Debaix, M. Gubler, F. Terzi, 2014, Nephron.

Gln1069Arg angiotensin I-converting enzyme mutation impairs transport to the cell surface resulting in selective denaturation of the C domain

S. Kalinin, O. Gribouval, M. Gubler, 2010 .

Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease

C. Antignac, M. Gubler, J. Terzic, 2020, Pediatric Nephrology.

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

C. Antignac, M. Gubler, N. Braverman, 2019, European journal of medical genetics.

Inherited renal tubular dysgenesis may not be universally fatal

O. Gribouval, M. Gubler, D. Landau, 2010, Pediatric Nephrology.

Distribution of extracellular matrix glycoproteins during normal development of human kidney. An immunohistochemical study.

J. Foidart, M. Gubler, F. Mounier, 1986, Laboratory investigation; a journal of technical methods and pathology.

Inherited defects of renal basement membranes.

M. Gubler, J. Grünfeld, G. Bobrie, 1989, Advances in nephrology from the Necker Hospital.

Ontogenesis of 28 kDa vitamin D-induced calcium-binding protein in human kidney.

M. Gubler, M. Thomasset, A. Bréhier, 1987, Kidney international.

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis.

A. Munnich, P. Rustin, A. Rötig, 1995, The Journal of pediatrics.

COLLAGEN DISTRIBUTION IN FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS: AN IMMUNOFLUORESCENCE AND ULTRASTRUCTURAL IMMUNOGOLD STUDY

M. Gubler, yi cai, M. Sich, 1996 .

Collagen distribution in human membranous glomerulonephritis

M. Gubler, yi cai, M. Kleppel, 1996, Pediatric Nephrology.

Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.

C. Antignac, M. Gubler, Y. Sado, 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Collagen distribution in focal and segmental glomerulosclerosis: an immunofluorescence and ultrastructural immunogold study.

M. Gubler, M. Kleppel, Y. Cai, 1996, Journal of Pathology.

A review of the phenotypic variation due to the Denys‐Drash syndrome‐associated germline WT1 mutation R362X

A. Reeve, R. Heathcott, M. Gubler, 2002, Human mutation.

Distribution of α-integrin subunits in fetal polycystic kidney diseases

M. Gubler, M. Dommergues, F. Narcy, 1997, Pediatric Nephrology.

Nephrotic syndrome and mitochondrial disorders: answers

C. Antignac, N. Wagner, M. Gubler, 2019, Pediatric Nephrology.

[Fabry's disease. Carbamazepine therapy in acrodyniform syndrome].

M. Gubler, G. Lenoir, F. Tomé, 1977, Archives francaises de pediatrie.

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

J. Beckmann, O. Gribouval, C. Antignac, 1995, Human molecular genetics.