Glomerular basement membrane disorders

Heath KE et al. (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Devriendt K et al. (1998) Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

Cochat P et al. (1988) Diffuse leiomyomatosis in Alport syndrome.

M'Rad R et al. (1992) Alport syndrome: a genetic study of 31 families.

Heynen MJ et al. (1988) Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes.

Peterson LC et al. (1985) Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.

Gershoni-Baruch R et al. (1988) Fechtner syndrome: clinical and genetic aspects.

Rocca B et al. (1993) Fechtner syndrome: report of a third family and literature review.

Toren A et al. (1999) Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.

Seri M et al. (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Toren A et al. (2000) Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.

Seri M et al. (2003) MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

None (1963) CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY.

Vitelli F et al. (1999) Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).

Lees GE et al. (1999) New form of X-linked dominant hereditary nephritis in dogs.

None (1999) Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.

van der Loop FT et al. (2000) Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

Heidet L et al. (2001) Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Meloni I et al. (2002) FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

Meloni I et al. (2002) Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

Ohkubo S et al. (2003) Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome.

Prakash S et al. (2003) Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.

Cox ML et al. (2003) Genetic cause of X-linked Alport syndrome in a family of domestic dogs.

REYERSBACH GC et al. (1954) Congenital hereditary hematuria.

WHALEN RE et al. (1961) Hereditary nephropathy, deafness and renal foam cells.

COHEN MM et al. (1961) A genetic study of hereditary renal dysfunction with associated nerve deafness.

None (1961) Alport's syndrome of hereditary nephritis with deafness.

None (1963) CONGENITAL HEREDITARY NEPHRITIS WITH NERVE DEAFNESS.

MULROW PJ et al. (1963) HEREDITARY NEPHRITIS. REPORT OF A KINDRED.

MARIN OS et al. (1961) Hereditary interstitial nephritis associated with polyneuropathy.

Göbel J et al. (1992) Kidney transplantation in Alport's syndrome: long-term outcome and allograft anti-GBM nephritis.

Zhou J et al. (1992) Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.

Hertz JM et al. (2005) Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

Smeets HJ et al. (1992) Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

Hertz JM et al. (1991) Multipoint linkage analysis in X-linked Alport syndrome.

Turner N et al. (1992) Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen.

Burke JP et al. (1991) Recurrent corneal epithelial erosions in Alport's syndrome.

Shaw RF et al. (1961) Abnormal Segregation in Hereditary Renal Disease with Deafness.

Baumal R et al. (1991) Renal disease in carrier female dogs with X-linked hereditary nephritis. Implications for female patients with this disease.

None (1927) HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

Myers JC et al. (1990) Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus.

Barker DF et al. (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

Anazi S et al. (2014) Gonadal mosaicism as a rare cause of autosomal recessive inheritance.

Kashtan C et al. (1986) Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis.

Flinter FA et al. (1989) Localization of the gene for classic Alport syndrome.

Savage CO et al. (1986) Use of a monoclonal antibody in differential diagnosis of children with haematuria and hereditary nephritis.

Flinter FA et al. (1988) Genetics of classic Alport's syndrome.

Szpiro-Tapia S et al. (1988) Linkage studies in X-linked Alport's syndrome.

None (1988) Alport's syndrome.

Atkin CL et al. (1988) Mapping of Alport syndrome to the long arm of the X chromosome.

Melvin T et al. (1986) Amyloid P component is not present in the glomerular basement membrane in Alport-type hereditary nephritis.

Yoshikawa N et al. (1987) Nonfamilial hematuria associated with glomerular basement membrane alterations characteristic of hereditary nephritis: comparison with hereditary nephritis.

Streeten BW et al. (1987) Lens capsule abnormalities in Alport's syndrome.

Hasstedt SJ et al. (1986) Genetic heterogeneity among kindreds with Alport syndrome.

Feingold J et al. (1985) Genetic heterogeneity of Alport syndrome.

Robinson WF et al. (1985) Familial nephropathy in cocker spaniels.

Sherman RL et al. (1974) Hereditary nephritis with a characteristic renal lesion.

Spear GS et al. (1972) Alport's syndrome. Emphasizing electron microscopic studies of the glomerulus.

MacNeill E et al. (1973) Segregation ratios in Alport's syndrome.

Churg J et al. (1973) Pathologic characteristics of hereditary nephritis.

Grünfeld JP et al. (1973) Progressive and nonprogressive hereditary chronic nephritis.

None () Editorial: Alport's syndrome: a consideration of pathogenesis.

Chuang VP et al. (1974) Angiographic features of Alport's syndrome. Hereditary nephritis.

None (1967) Hereditary nephropathy without deafness.

Spear GS et al. (1970) Hereditary nephritis with nerve deafness. Immunofluorescent studies on the kidney, with a consideration of discordant immunoglobulin-complement immunofluorescent reactions.

Purriel P et al. (1970) Familial hereditary nephropathy (Alport's syndrome).

Myers GJ et al. (1972) The etiology of deafness in Alport's syndrome.

Chazan JA et al. (1971) Hereditary nephritis. Clinical spectrum and mode of inheritance in five new kindreds.

Miyoshi K et al. (1975) Antithyroid antibodies in Alport's syndrome.

Preus M et al. (1971) Genetics of hereditary nephropathy with deafness (Alport's disease).

None (1979) Healthy female carriers of a gene for the Alport syndrome: importance for genetic counseling.

Miller GW et al. (1970) Alport's syndrome.

None (1968) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 15-1968.

Goyer RA et al. (1968) Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis.

Crawfurd MD et al. (1968) Alport's syndrome of hereditary nephritis and deafness.

Arnott EJ et al. (1966) Anterior lenticonus and Alport's syndrome.

O'Neill WM et al. (1978) Hereditary nephritis: a re-examination of its clinical and genetic features.

Jeraj K et al. (1983) Absence of Goodpasture's antigen in male patients with familial nephritis.

Hasstedt SJ et al. (1983) X-linked inheritance of Alport syndrome: family P revisited.

None (1984) Hereditary nephritis (Alport's syndrome)-1983.

None (1982) Familial glomerular disease.

None (1978) Hereditary nephritis.

None (1983) Alport's syndrome: a genetic defect in biochemical composition of basement membrane of glomerulus, lens, and inner ear?

None (1983) Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?

Milliner DS et al. (1982) Renal transplantation in Alport's syndrome: anti-glomerular basement membrane glomerulonephritis in the allograft.

Yoshikawa N et al. (1982) Familial hematuria; clinico-pathological correlations.

McCoy RC et al. (1982) Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis.

Gubler M et al. (1981) Alport's syndrome. A report of 58 cases and a review of the literature.

None (1978) Lenticonus anterior and Alport's syndrome.

Evans SH et al. (1980) Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria.

Perrin D et al. (1980) Perimacular changes in Alport's syndrome.

None (1980) Hereditary nephropathy (Alport syndrome): correlation of clinical data with glomerular basement membrane alterations.

Passwell JH et al. (1981) Hereditary nephritis with associated defects in proximal renal tubular function.

Guo C et al. (1995) Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.

Gubler MC et al. (1995) Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.

Kalluri R et al. (1995) A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome.

Lane W et al. (1994) X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly.

Lemmink HH et al. (1994) Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

Mochizuki T et al. (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

Zheng K et al. (1994) Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV.

Kalluri R et al. (1994) COL4A5 gene deletion and production of post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome.

Beathard GA et al. (1977) Development of the characteristic ultrastructural lesion of hereditary nephritis during the course of the disease.

Barker DF et al. (1996) A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.

Renieri A et al. (1996) X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Turco AE et al. (1995) A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.

Knebelmann B et al. (1996) Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

Kalluri R et al. (1997) Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis.

Lemmink HH et al. (1997) The clinical spectrum of type IV collagen mutations.

Rhys C et al. (1997) Recurrent corneal erosion associated with Alport's syndrome. Rapid communication.

Jefferson JA et al. (1997) Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).

Colville D et al. (1997) Ocular manifestations of autosomal recessive Alport syndrome.

Kalluri R et al. (1997) Susceptibility to anti-glomerular basement membrane disease and Goodpasture syndrome is linked to MHC class II genes and the emergence of T cell-mediated immunity in mice.

Colville DJ et al. (1997) Alport syndrome. A review of the ocular manifestations.

Piccini M et al. (1998) FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

Meleg-Smith S et al. (1998) X-linked Alport syndrome in females.

Jonsson JJ et al. (1998) Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Lees GE et al. (1998) A model of autosomal recessive Alport syndrome in English cocker spaniel dogs.

OMIM.ORG article