Published in Ann Genet on January 01, 1985
Microdeletion syndromes, balanced translocations, and gene mapping. J Med Genet (1988) 1.22
Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). J Med Genet (1991) 1.22
Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. J Med Genet (1989) 1.05
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet (1991) 0.94
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. J Med Genet (1997) 0.80
Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76
Human chromosome 8. J Med Genet (1988) 0.75
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. Clin Genet (1976) 1.90
Chromosome 6q deletions: a report of two additional cases and a review of the literature. Am J Med Genet (1990) 1.62
Maintenance of lower proportions of (n - 6) eicosanoid precursors in phospholipids of human plasma in response to added dietary (n - 3) fatty acids. Biochim Biophys Acta (1992) 1.50
Anodontia of permanent teeth (OMIM # 206780) and pegged/missing maxillary lateral incisors (OMIM # 150400) in the same family. Am J Med Genet (2000) 1.43
Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement. Clin Genet (1986) 1.42
Mandibulofacial dysostosis with limb malformations (Nager's acrofcial dysostosis). Birth Defects Orig Artic Ser (1974) 1.24
Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. Am J Med Genet (1988) 1.24
Trisomy of the short arm of chromosome 17. Humangenetik (1974) 1.16
Tentative assignment of piebald trait gene to chromosome band 4q12. Hum Genet (1986) 1.13
Caudal regression anomalad (sacral agenesis) in siblings. Clin Genet (1978) 1.13
Body iron stores and risk of colonic neoplasia. J Natl Cancer Inst (1994) 1.11
Trisomy 9 mosaicism in a newborn infant with multiple malformations. J Pediatr (1974) 1.11
Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet (1981) 1.09
Serum antioxidants and age-related macular degeneration in a population-based case-control study. Arch Ophthalmol (1995) 1.08
Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7. Hum Genet (1978) 1.08
Human serum carotenoid concentrations are related to physiologic and lifestyle factors. J Nutr (1996) 1.07
Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. Clin Genet (2004) 1.05
Balanced translocations involving chromosome 12: report of a case and possible evidence for position effect. Ann Genet (1976) 1.05
Clinical consequence of Xp-. Hum Genet (1979) 1.03
Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion. Hum Genet (1982) 0.99
Partial trisomy 9q due to maternal 9/17 translocation. Am J Dis Child (1980) 0.98
Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters. Clin Genet (1985) 0.97
Achondroplasia in two sisters with normal parents. Birth Defects Orig Artic Ser (1974) 0.95
Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, + mar by use of chromosome-specific DNA probes. Am J Med Genet (1990) 0.94
Balanced reciprocal translocation between two D-group chromosomes in a family with myotonic dystrophy. Am J Med Sci (1968) 0.94
Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q. J Med Genet (1988) 0.93
The X-linked syndrome of macroorchidism and mental retardation: further observations. Am J Med Genet (1978) 0.92
Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome. Am J Hum Genet (1998) 0.92
Delineation of 14q32.3 deletion syndrome. J Med Genet (1997) 0.90
The Meckel syndrome in the Hutterites. Am J Med Genet (1980) 0.90
Cellular expansion and gene expression in the developing grape (Vitis vinifera L.). Protoplasma (2008) 0.90
Stopped flow microcalorimetry without adiabatic compression:application to reactions with half-lives between 3 and 50 ms. Anal Biochem (1980) 0.89
Twin brothers with MIDAS syndrome and XX karyotype. Am J Med Genet A (2003) 0.86
Participation of lycopene and beta-carotene in carcinogenesis: defenders, aggressors, or passive bystanders? Epidemiol Rev (2001) 0.86
The behavior of ring chromosome 13. Humangenetik (1974) 0.86
Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes. Am J Med Genet (1993) 0.85
Serum carotenoids and tocopherols and severity of nuclear and cortical opacities. Invest Ophthalmol Vis Sci (1995) 0.85
Autosomal dominant transmission of familial laterality defects. Am J Med Genet (1996) 0.85
Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig Artic Ser (1976) 0.84
Familial short arm deletion of chromosome no. 15. Humangenetik (1974) 0.84
Innovative high-surface-area CuO pretreated cotton effective in bacterial inactivation under visible light. ACS Appl Mater Interfaces (2010) 0.84
Photocatalytic storing of O2 as H2O2 mediated by high surface area CuO. Evidence for a reductive-oxidative interfacial mechanism. Langmuir (2005) 0.83
Supernumerary small ring chromosome. Humangenetik (1974) 0.83
Spontaneous abortion. Chromosome studies on 41 cases and an analysis of maternal age and duration of pregnancy in relation to karyotype. Am J Obstet Gynecol (1969) 0.82
Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31. Am J Med Genet (1999) 0.82
beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients. Hum Genet (1996) 0.82
Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities. Hum Genet (1987) 0.82
Interstitial 6q deletion and Prader-Willi-like phenotype. Clin Genet (1996) 0.81
The Aarskog (facio-digito-genital) syndrome. Clin Genet (1979) 0.81
Neurofibromatosis and psychological processes. J Dev Behav Pediatr (1988) 0.81
beta-Carotene supplementation results in an increased serum and colonic mucosal concentration of beta-carotene and a decrease in alpha-tocopherol concentration in patients with colonic neoplasia. Cancer Epidemiol Biomarkers Prev (1994) 0.81
Possible teratogenicity of sulfasalazine. N Engl J Med (1988) 0.81
Workshop on genetic disorders in the Hutterites--Edmonton, Canada, October 12-13, 1983. Am J Med Genet (1985) 0.81
Common risk factors in adolescent suicide attempters revisited. Crisis (1999) 0.80
A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum Genet (1984) 0.80
Familial tiny 9p/20p translocation: 9p24. The critical segment for monosomy 9p syndrome. Ann Genet (1982) 0.80
Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. Am J Med Genet (1993) 0.80
[Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination]. Monatsschr Kinderheilkd (1983) 0.79
Routine application of high resolution chromosome analysis. Am J Med Genet (1986) 0.79
Partial trisomy 4q due to familial 2/4 translocation. Hum Genet (1976) 0.79
12P trisomy: a syndrome? Ann Genet (1976) 0.79
Catechol-O-methyltransferase of erythrocytes in patients with endogenous psychoses. Psychiatry Res (1981) 0.79
Studies on the change of electrophoretic mobility and the decay of catalytic activity of brain-type creatine kinase isoenzyme (CK-BB) following incubation at 37 degrees C. Clin Chim Acta (1981) 0.78
Preparation of high resolution chromosomes from amniotic fluid cells. Prenat Diagn (1983) 0.78
Karyotype-phenotype analysis: 9p deletion versus 10q2 duplication. Ann Genet (1986) 0.78
Serum concentrations of vitamin D metabolites, vitamins A and E, and carotenoids in six canid and four ursid species at four zoos. Comp Biochem Physiol A Mol Integr Physiol (2001) 0.78
Letter: Cytogenetic evidence for evolution of X-chromosome inactivation. Lancet (1975) 0.78
Changes in plasma lipids and lipoproteins after a modified fat diet. Lancet (1980) 0.78
Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome. Clin Genet (1979) 0.78
Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28). Am J Med Genet (1992) 0.78
Interstitial duplication/deletion owing to unequal crossing-over in association with pericentric inversion. J Med Genet (1983) 0.78
Chromosome aberrations and oncogene alterations in two new breast tumor cell lines. Cancer Genet Cytogenet (1991) 0.78
The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. Arch Intern Med (1965) 0.78
Temperature-dependent stereoselectivity and hydrogen deuterium kinetic isotope effect for .gamma.-hydrogen transfer to 2-hexyloxy radical. The transition state for the Barton reaction. J Am Chem Soc (1986) 0.77
Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22). Am J Med Genet (1983) 0.77
Trembling chin--a report of this inheritable dominant character in a four-generation Canadian family. Clin Genet (1991) 0.77
A simplified micromethod for the determination of the acetylator phenotype. J Clin Chem Clin Biochem (1977) 0.77
Normal serum response to oral beta-carotene in humans. J Am Coll Nutr (1989) 0.77
A case of 48,XXYY--paternal origin of the extra X chromosome. Humangenetik (1974) 0.77
A pseudoisochromosome 18q and an isodicentric chromosome 18. Clin Genet (1989) 0.77
Effects of beta-carotene repletion on beta-carotene absorption, lipid peroxidation, and neutrophil superoxide formation in young men. Nutr Cancer (1990) 0.77
Position of the Duffy locus on chromosome 1 in relation to breakpoints for structural rearrangements. Am J Hum Genet (1974) 0.77
High resolution pattern of an inverted duplication (15). Clin Genet (1986) 0.77
Inverted duplication of 22pter----q11.21 in cat-eye syndrome. Am J Med Genet (1986) 0.76
Partial trisomy 12p due to t(12;21)pat translocation. Hum Genet (1977) 0.76
Beta-carotene serum response in young and elderly females. Eur J Clin Nutr (1989) 0.76
Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14. Hum Genet (1982) 0.76
Pulmonary pentane excretion increases with age in healthy subjects. Mech Ageing Dev (1993) 0.76
In vitro effect of haloperidol, chlorpromazine, imipramine and lithium on the erythrocyte catechol-O-methyltransferase. Arzneimittelforschung (1982) 0.76
Scintilymphangiography with 99 mTc-antimony sulfide colloid in hereditary lymphedema (Nonne-Milroy diseases). Clin Nucl Med (1978) 0.76
The Alberta Hereditary Diseases Program: a regional model for delivery of genetic services. CMAJ (1990) 0.76