Renale Adysplasie

Skinner MA et al. (2008) Renal aplasia in humans is associated with RET mutations.

Yang Y et al. (2008) RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.

Nishimoto K et al. (2001) PAX2 gene mutation in a family with isolated renal hypoplasia.

Jenkins D et al. (2005) De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

Schmidt W et al. (1982) Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases.

Doray B et al. (1999) Hereditary renal adysplasia in a three generations family.

Ogata T et al. (2000) Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

Li Volti S et al. () Non-allelic heterogeneity in familial unilateral renal adysplasia.

Joss S et al. (2003) De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia.

BARON C et al. (1954) Bilateral agenesis of the kidneys in two consecutive infants.

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BAIN AD et al. (1964) NEWBORN AFTER PROLONGED LEAKAGE OF LIQUOR AMNII.

DAVIDSON WM et al. (1954) Bilateral absence of the kidneys and related congenital anomalies.

McGillivray BC et al. (1990) Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia.

Bound JP et al. (1943) Two Cases of Congenital Absence of One Kidney in Same Family.

POTTER EL et al. (1946) Facial characteristics of infants with bilateral renal agenesis.

Sanna-Cherchi S et al. (2012) Copy-number disorders are a common cause of congenital kidney malformations.

Bankier A et al. (1988) Renal ultrasound examination of parents in dominantly inherited renal adysplasia--a note of caution.

Morse RP et al. (1987) Bilateral renal agenesis in three consecutive siblings.

McPherson E et al. (1987) Dominantly inherited renal adysplasia.

Opitz JM et al. (1987) Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA).

Bankier A et al. (1985) A pedigree study of perinatally lethal renal disease.

Wilson RD et al. (1985) Renal agenesis in British Columbia.

Knudsen JB et al. (1979) Familial renal agenesis and urogenital malformations. Seminal vesicle cyst and vaginal cyst with bicornuate uterus in siblings.

Cain DR et al. (1974) Familial renal agenesis and total dysplasia.

Carter CO et al. (1979) A family study of renal agenesis.

Buchta RM et al. (1973) Familial bilateral renal agenesis and hereditary renal adysplasia.

Kohn G et al. (1973) The association of bilateral and unilateral renal aplasia in the same family.

Hack M et al. (1974) Familial aggregation in bilateral renal agenesis.

Rizza JM et al. (1971) Bilateral renal agenesis in two female siblings.

Winter JS et al. (1968) A familial syndrome of renal, genital, and middle ear anomalies.

Hakim RM et al. (1984) Hypertension and proteinuria: long-term sequelae of uninephrectomy in humans.

Yates JR et al. (1984) Concordant monozygotic twins with bilateral renal agenesis.

Roodhooft AM et al. (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys.

Monn E et al. (1984) Hereditary renal adysplasia.

Kiprov DD et al. (1982) Focal and segmental glomerulosclerosis and porteinuria associated with unilateral renal agenesis.

Schinzel A et al. (1978) Bilateral renal agenesis in 2 male sibs born to consanguineous parents.

Schimke RN et al. (1980) Hereditary urogenital adysplasia.

Scott RJ et al. (1995) Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence.

Brownstein S et al. (1976) Bilateral renal agenesis with multiple congenital ocular anomalies.

Fitch N et al. (1977) Heterogeneity of bilateral renal agenesis.

Battin J et al. (1993) Familial occurrence of hereditary renal adysplasia with müllerian anomalies.

Selig AM et al. (1993) Renal dysplasia, megalocystis, and sirenomelia in four siblings.

Miyamoto N et al. (1997) Defects of urogenital development in mice lacking Emx2.