M. Gubler

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Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

D. Le Paslier, D. Paslier, F. Silbermann, 1996, Human molecular genetics.

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

G. Mollet, C. Antignac, C. Antignac, 1998, American journal of human genetics.

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

G. Mollet, C. Antignac, C. Antignac, 2001, Journal of the American Society of Nephrology : JASN.

Genetics of the nephrotic syndrome.

R. Salomon, M. Gubler, P. Niaudet, 2000, Current opinion in pediatrics.

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

J. Weissenbach, R. Heilig, F. Silbermann, 1997, Human molecular genetics.

More on clinical renal genetics.

F. Nevens, C. Antignac, M. Kalbáčová, 2010, Clinical journal of the American Society of Nephrology : CJASN.

Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation

C. Guyot, N. Winer, C. Gicquel, 2004, Prenatal diagnosis.

Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment

Y. Ville, T. Attié-Bitach, T. Blanc, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis.

L. Orozco, L. Heidet, M. Gubler, 2000, Nephrologie.

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.

Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.

C. Antignac, Y. Sado, J. Fléjou, 1998, The American journal of pathology.

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.

Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?

V. Tsatsaris, M. Dommergues, M. Gubler, 2002, BJOG : an international journal of obstetrics and gynaecology.

A specific glomerular lesion of the graft: allograft glomerulopathy.

C. Antignac, M. Gubler, P. Niaudet, 1993, Kidney international. Supplement.

Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization.

C. Antignac, Y. Sado, Y. Ninomiya, 1997, Laboratory investigation; a journal of technical methods and pathology.

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.

C. Antignac, C. Antignac, M. Gubler, 1997, Cytogenetics and cell genetics.

A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q.

J. Weissenbach, D. Le Paslier, F. Silbermann, 1995, Genomics.