Renata Laxova
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American geneticist
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Renata Laxovabiology Degrees
Biology
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Genetics
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Biology
Why Is Renata Laxova Influential?
(Suggest an Edit or Addition)According to Wikipedia, Renata Laxova was a Czech American pediatric geneticist and a professor of genetics at the Departments of Pediatrics and Medical Genetics, Waisman Center, University of Wisconsin–Madison. She was the discoverer of the Neu-Laxová syndrome, a rare congenital abnormality involving multiple organs, with autosomal recessive inheritance.
Renata Laxova's Published Works
Published Works
- Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions (2015) (1530)
- Diagnostic criteria for Walker-Warburg syndrome. (1989) (409)
- Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. (1994) (203)
- Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. (2003) (192)
- The critical region on the human Xq (1990) (149)
- Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 (1995) (117)
- The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature. (1984) (101)
- A further example of a lethal autosomal recessive condition in sibs. (2008) (77)
- An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967. (1977) (71)
- Del(10)(q22.3q24.1) associated with juvenile polyposis. (1997) (53)
- Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). (1990) (50)
- Pregnancy outcome, health of children, and family adjustment after donor insemination (1990) (49)
- Head circumference of children with Down syndrome (0-36 months) (1992) (48)
- Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening. (1984) (45)
- Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings. (1996) (31)
- Integrating Genetic Services into Public Health – Guidance for State and Territorial Programs from the National Newborn Screening and Genetics Resource Center (NNSGRC) (2002) (29)
- An X-linked recessive basal ganglia disorder with mental retardation. (1985) (29)
- Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome. (1987) (28)
- Renal insufficiency in Williams syndrome. (1987) (27)
- Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome. (1986) (26)
- Familial ovarian germ cell cancer: report and review. (1999) (26)
- Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs. (1981) (26)
- Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. (1991) (24)
- Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission. (1999) (22)
- An aetiological study of fifty-three female patients from a subnormality hospital and of their offspring. (2008) (22)
- Previously unrecognized congenital progeroid disorder. (1990) (21)
- Dubowitz syndrome: long-term follow-up of an original patient. (1995) (21)
- Lionel Sharples Penrose, 1898-1972: A personal memoir in celebration of the centenary of his birth. (1998) (21)
- Pericentric inversion in a family with a 21/22 translocation. (1968) (20)
- New, autosomal dominant form of ectodermal dysplasia (1983) (20)
- Congenital generalized fibromatosis (1990) (19)
- Menkes' syndrome with vascular and adrenergic nerve abnormalities. (1983) (17)
- The Amish: Perceptions of genetic disorders and services (1995) (16)
- Family with probable achondrogenesis and lipid inclusions in fibroblasts (1973) (16)
- Amylase heterogeneity (2004) (16)
- Waardenburg syndrome type I in a child with deletion (2) (q35q36.2) (1992) (16)
- Amylase heterogeneity variants in man (2004) (14)
- De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p. (1994) (14)
- Apparent Coats' disease and pericentric inversion of chromosome 3. (1987) (13)
- Delayed Diagnosis in Congenital Adrenal Hyperplasia. Need for Newborn Screening (1984) (13)
- Progress of a Comprehensive Familial Cancer Genetic Counseling Program in the Era of BRCA1 and BRCA2. (2002) (11)
- Fragile X syndrome. (2019) (11)
- A 7-year old white-male boy with progressive neurological deterioration. (1991) (11)
- DEVELOPMENT OF TRANSLOCATION 21/22 (1966) (11)
- Fragile X screening: what is the real issue? (1995) (9)
- A CLINICAL SERVICE FOR PRENATAL DIAGNOSIS (1975) (9)
- Antenatal development of amylase isoenzymes. (1972) (9)
- The short umbilical cord. (1987) (8)
- A case of XYY Down's syndrome confirmed by autoradiography. (1971) (8)
- Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 (2004) (7)
- Evaluation of the effectiveness of a teratogen information service: a survey of patient and professional satisfaction. (1993) (7)
- Minimum guidelines for the delivery of clinical genetics services. The Evaluation of Clinical Services Subcommittee, Great Lakes Regional Genetics Group. (1993) (7)
- Management of the fetus with urinary tract dilatation. (1987) (6)
- Brief clinical report: new, autosomal dominant form of ectodermal dysplasia. (1983) (6)
- INTRAUTERINE AMPUTATIONS AFTER AMNIOCENTESIS (1978) (6)
- Testing for cancer susceptibility genes in children. (1999) (6)
- Amylase heterogeneity in patients with Down's syndrome. (2008) (2)
- Pathology of chromosome abnormalities in the fetus--pathologic markers. (1987) (2)
- A case of translocation D-, t(lp+) (2004) (1)
- Amylase heterogeneity in man. (1966) (1)
- [Amylasemia, heterogeneity of serum amylase and activity of the sweat amylolytic enzyme in members of families afflicted with mucoviscidosis]. (1970) (1)
- Progressive neurologic deterioration in a nine-year-old white male. (1990) (1)
- Prenatal diagnosis of genetic diseases. (1980) (1)
- Prenatal diagnosis of genetic defects. (1979) (1)
- Management of fetal hydronephrosis. (1995) (0)
- Clinical genetics in Wisconsin (1984) (0)
- [The genetic situation in the South Moravian region]. (1968) (0)
- Serotonin in Down's Syndrome Edited by Mary Coleman. (Pp. 224; illustrated; $15.00.) North-Holland: Amsterdam. 1973. (1976) (0)
- [Mucoviscidosis in childhood]. (1969) (0)
- [Activity values of serum isoamylases in monozygotic and dizygotic twins]. (1970) (0)
- [RESULTS OF A SHORT-TERM HIGH-DOSED HORMONAL THERAPY OF RHEUMATIC FEVER IN CHILDHOOD]. (1965) (0)
- MANAGEMENT OF FETAL HYDRONEPHROSIS. AUTHOR'S REPLY (1995) (0)
- [Dynamics of sweating reactions in rheumatic patients]. (1962) (0)
- Prenatal diagnosis...the right to request or reject. (1976) (0)
- CHOLANGIOCELLULAR CARCINOMA WITH CIRRHOSIS IN A BOY OF EIGHT YEARS. (1963) (0)
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