Published in Clin Genet on January 01, 1972
Hereditary male pseudohermaphroditism associated with an unstable form of 5 alpha-reductase. J Clin Invest (1978) 1.05
Perineal reconstruction in ambiguous genitalia infants raised as females. Ann Surg (1984) 0.76
Reproducing genetics. Genet Med (2015) 0.75
Compendium of pseudo conditions in sexually transmitted diseases. Indian J Sex Transm Dis (2015) 0.75
Male hypogonadism. West J Med (1976) 0.75
Hormonal regulation of testicular descent. Eur J Pediatr (1987) 0.75
The Bloom's syndrome gene product is homologous to RecQ helicases. Cell (1995) 9.91
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Proc Natl Acad Sci U S A (1974) 6.51
Evidence that xeroderma pigmentosum cells do not perform the first step in the repair of ultraviolet damage to their DNA. Proc Natl Acad Sci U S A (1969) 3.97
The absence of a relation between the periconceptional use of vitamins and neural-tube defects. National Institute of Child Health and Human Development Neural Tube Defects Study Group. N Engl J Med (1989) 3.82
The overlap syndrome of asthma and COPD: what are its features and how important is it? Thorax (2009) 3.30
Heterogeneity of airway inflammation in persistent asthma : evidence of neutrophilic inflammation and increased sputum interleukin-8. Chest (2001) 3.19
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet (1969) 2.87
Sex ratio associated with timing of insemination and length of the follicular phase in planned and unplanned pregnancies during use of natural family planning. Hum Reprod (1998) 2.67
International system for human gene nomenclature (1979) ISGN (1979). Cytogenet Cell Genet (1979) 2.58
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Resynthesizing evolutionary and developmental biology. Dev Biol (1996) 2.50
Conference report: International Workshop on the fragile X and X-linked mental retardation. Am J Med Genet (1984) 2.49
Further comments on the lissencephaly syndromes. Am J Med Genet (1985) 2.42
Noonan syndrome: a review. Am J Med Genet (1985) 2.40
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
Are obese women at higher risk for producing malformed offspring? Am J Obstet Gynecol (1994) 2.31
Clinical review 130: Addison's disease 2001. J Clin Endocrinol Metab (2001) 2.31
Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci U S A (1989) 2.22
Moderate caffeine use and the risk of spontaneous abortion and intrauterine growth retardation. JAMA (1993) 2.20
Laparoscopic hysterectomy--is there a benefit? N Engl J Med (1996) 2.14
Down syndrome is not increased in offspring of natural family planning users (case control analysis) Am J Med Genet (1995) 2.13
Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet (1987) 2.10
Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet (1975) 2.08
A retarded rate of DNA chain growth in Bloom's syndrome. Proc Natl Acad Sci U S A (1975) 2.06
The impact of prenatal screening and diagnostic testing upon the cognitions, emotions and behaviour of pregnant women. J Psychosom Res (1989) 2.06
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd (1974) 1.93
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter). Am J Med Genet (1977) 1.93
Neutrophil degranulation and cell lysis is associated with clinical severity in virus-induced asthma. Eur Respir J (2002) 1.92
X inactivation in man: a woman with t(Xq--;12q+). Am J Hum Genet (1973) 1.90
Apparently isodicentric but functionally monocentric X chromosome in man. Am J Hum Genet (1974) 1.84
Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder. Chromosoma (1974) 1.82
The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl (1986) 1.77
Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes. Am J Hum Genet (1973) 1.77
Soluble RAGE is deficient in neutrophilic asthma and COPD. Eur Respir J (2011) 1.76
The Brachmann-de Lange syndrome. Am J Med Genet (1985) 1.76
Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76
Genetically determined sex-reversal in 46,XY humans. Science (1978) 1.76
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn (2002) 1.74
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71
Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes. Am J Hum Genet (1977) 1.67
Molecular evidence that homologous recombination occurs in proliferating human somatic cells. Proc Natl Acad Sci U S A (1990) 1.65
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. Hum Genet (1985) 1.61
Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol (1980) 1.60
X-autosome translocations: a review. Birth Defects Orig Artic Ser (1978) 1.57
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet (1975) 1.56
An abnormal profile of DNA replication intermediates in Bloom's syndrome. Cancer Res (1990) 1.54
Altered DNA ligase I activity in Bloom's syndrome cells. Nature (1987) 1.54
I-cell disease: a clinical picture. J Pediatr (1971) 1.54
Center for Barr body condensation on the proximal part of the human Xq: a hypothesis. Chromosoma (1974) 1.53
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. Am J Med Genet (1990) 1.50
Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet (1994) 1.50
Different inflammatory phenotypes in adults and children with acute asthma. Eur Respir J (2011) 1.50
Lack of relation of increased malformation rates in infants of diabetic mothers to glycemic control during organogenesis. N Engl J Med (1988) 1.50
Risk of neural tube defects in relation to maternal fertility and fertility drug use. Lancet (1990) 1.49
The neurofibromatosis-Noonan syndrome. Am J Med Genet (1985) 1.49
Shared HLA antigens and reproductive performance among Hutterites. Am J Hum Genet (1983) 1.47
Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans. Am J Med Genet (1994) 1.46
Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases. Clin Genet (1977) 1.45
The Roberts syndrome. Clin Genet (1974) 1.45
Quantification of UV-B flux through time using UV-B-absorbing compounds contained in fossil Pinus sporopollenin. New Phytol (2011) 1.45
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. Am J Med Genet (1983) 1.44
The SC phocomelia and the Roberts syndrome: nosologic aspects. Eur J Pediatr (1977) 1.43
CNS anomalies and the midline as a "developmental field". Am J Med Genet (1982) 1.43
Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet Suppl (1986) 1.43
A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med (1992) 1.43
Metabolic control and progression of retinopathy. The Diabetes in Early Pregnancy Study. National Institute of Child Health and Human Development Diabetes in Early Pregnancy Study. Diabetes Care (1995) 1.42
Chorionic villus sampling for first-trimester prenatal diagnosis: Northwestern University program. Am J Obstet Gynecol (1985) 1.42
Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A (1972) 1.42
Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am J Med Genet (1999) 1.41
Pregnancy and the timing of intercourse. N Engl J Med (1995) 1.41
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. Am J Med Genet (1998) 1.40
Risk evaluation of CVS. Prenat Diagn (1993) 1.40
Endocrine function in thalassemia major. Ann N Y Acad Sci (1974) 1.40
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet (1985) 1.40
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? Am J Med Genet (1996) 1.39
Vaginal cuff closure at abdominal hysterectomy: comparing sutures with absorbable staples. Obstet Gynecol (1991) 1.39
Low maternal serum alpha-fetoprotein and perinatal outcome. Am J Obstet Gynecol (1987) 1.39
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child (1971) 1.38
Risk of recurrent spontaneous abortion for pregnancies discovered in the fifth week of gestation. Lancet (1994) 1.37
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser (1975) 1.36
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am J Hum Genet (1995) 1.35
Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn (1992) 1.35
Maternal serum screening for fetal Down syndrome in women less than 35 years of age using alpha-fetoprotein, hCG, and unconjugated estriol: a prospective 2-year study. Obstet Gynecol (1992) 1.34
Bloom's syndrome: evidence for an increased mutation frequency in vivo. Science (1983) 1.34
Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth. Ann Intern Med (1966) 1.33
Molecular genetics of Bloom's syndrome. Hum Mol Genet (1996) 1.33
The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. Am J Hum Genet (1965) 1.31
Heritability and molecular genetic studies of endometriosis. Hum Reprod Update (2000) 1.30
Prenatal diagnosis by use of fetal cells isolated from maternal blood. Am J Obstet Gynecol (1995) 1.29
Sensitivity of Bloom's syndrome lymphocytes to ethyl methanesulfonate. Hum Genet (1979) 1.29
Cyclophosphamide in the treatment of idiopathic lipoid nephrosis. J Pediatr (1967) 1.28
Resorbed co-twin as an explanation for discrepant chorionic villus results: non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood. Prenat Diagn (1989) 1.27