Published in Hum Genet on January 01, 1983
Genes for immunoglobulin heavy chains and for alpha 1-antitrypsin are localized to specific regions of chromosome 14q. Nature (1982) 2.75
The chromosome constitution of 1000 human spermatozoa. Hum Genet (1983) 2.21
A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux. Am J Med Genet (1988) 1.47
Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature. Am J Med Genet (1995) 1.40
Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. Teratology (1977) 1.33
Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). Teratology (1976) 1.33
Pregnancy complications in type IV Ehlers-Danlos Syndrome. Lancet (1983) 1.16
Trigonocephaly and associated minor anomalies in mother and son. J Med Genet (1976) 0.95
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)]. Am J Med Genet (1996) 0.94
A dominantly inherited cytogenetic anomaly: a possible cell division mutant. Hum Genet (1983) 0.94
Gene deletion and duplication effects on phenotype and gamma globulin levels. J Med Genet (1971) 0.90
Craniosynostosis associated with partial duplication of 15q and deletion of 2q. Am J Med Genet (1992) 0.88
Partial trisomy 20 confirmed by gene dosage studies. Am J Med Genet (1979) 0.88
Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. J Med Genet (1995) 0.87
Tissue-specific methylation differences and cognitive function in fragile X premutation females. Am J Med Genet (1996) 0.87
Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). J Pediatr Ophthalmol Strabismus (1998) 0.85
IgA and partial deletions of chromosome 18. Lancet (1969) 0.84
Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant. J Med Genet (1993) 0.84
Ring chromosome 22 and autism: report and review. Am J Med Genet (2000) 0.84
Prenatal ultrasonic diagnosis of occipital encephalocele. Am J Obstet Gynecol (1978) 0.84
Mosaicism in amniotic fluid cell cultures. Birth Defects Orig Artic Ser (1977) 0.83
Kinetochore immunofluorescence in micronuclei: a rapid method for the in situ detection of aneuploidy and chromosome breakage in human fibroblasts. Mutat Res (1988) 0.83
Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions. Am J Med Genet (1997) 0.83
Molecular analysis redefines three human chromosome 14 deletions. Hum Genet (1995) 0.83
Maxillonasal dysplasia (Binder's syndrome). Plast Reconstr Surg (1979) 0.83
Characterization of malignant peripheral blood cells of juvenile chronic myelogenous leukemia. Cancer Res (1986) 0.82
Sex chromosome mosaicism not detected at amniocentesis. Prenat Diagn (1990) 0.82
Prenatal diagnosis by fetoscopy with subsequent normal delivery: report of a case. Am J Obstet Gynecol (1976) 0.82
Prenatal diagnosis of hypophosphatasia. N Engl J Med (1976) 0.82
Prenatal diagnosis of hypophosphatasia. Birth Defects Orig Artic Ser (1976) 0.81
A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum Genet (1984) 0.80
The antenatal diagnosis of genetic disease. Am J Obstet Gynecol (1974) 0.80
Infant outcome following mid-trimester amniocentesis: development and physical status at age six months. Br J Obstet Gynaecol (1985) 0.78
A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy. J Med Genet (1977) 0.78
Wilms tumor in a patient with Prader-Willi syndrome. J Pediatr (1993) 0.78
A possible primidone embryopathy. J Pediatr (1979) 0.78
Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies. Am J Med Genet (1998) 0.77
Midtrimester amniocentesis: obstetric outcome and neonatal neurobehavioral status. Am J Obstet Gynecol (1984) 0.75
The natural history of aminopterin-induced embryopathy. Birth Defects Orig Artic Ser (1977) 0.75
Ultrasound and amniotic fluid alpha-fetoprotein in the prenatal diagnosis of spina bifida. Obstet Gynecol (1982) 0.75
Letter: Confirmation of antenatally detected trisomy-D from saline aborted products of conception. Lancet (1974) 0.75
Arthrogryposis multiplex congenita--prenatal assessment with diagnostic ultrasound and fetoscopy. J Pediatr (1979) 0.75
Dilemma. Can Nurse (1976) 0.75
Letter: Prenatal diagnosis of hypophosphatasia. Lancet (1976) 0.75
Use of fetoscopy. Am J Obstet Gynecol (1978) 0.75
[Dilemma: prenatal diagnosis using amniocentesis]. Infirm Can (1977) 0.75
Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. List of all cytogenetic abnormalities detected. Prenat Diagn (1992) 0.75
Factors distinguishing couples at risk for nondisjunction. Can J Genet Cytol (1984) 0.75
The genetics of and associated clinical findings in humero-radial synostosis. Clin Genet (1976) 0.75
Autosomal imbalance with a near-normal phenotype: the small effect of trisomy for the short arm of chromosome 18. Birth Defects Orig Artic Ser (1978) 0.75
Prenatal diagnosis of hypophosphatasia. Lancet (1977) 0.75