Published in Hum Genet on November 01, 1986
Linkage disequilibrium, cystic fibrosis, and genetic counseling. Am J Hum Genet (1989) 2.19
Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. EMBO J (1988) 1.67
Recombinations between IRP and cystic fibrosis. Am J Hum Genet (1988) 1.44
Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C. Am J Hum Genet (2012) 1.08
Glycaemic regulation and insulin secretion are abnormal in cystic fibrosis pigs despite sparing of islet cell mass. Clin Sci (Lond) (2015) 0.94
Pancreatic damage in fetal and newborn cystic fibrosis pigs involves the activation of inflammatory and remodeling pathways. Am J Pathol (2012) 0.92
Attitudes toward abortion among parents of children with cystic fibrosis. Am J Public Health (1991) 0.89
Cystic fibrosis of the pancreas: involvement of MUC6 mucin in obstruction of pancreatic ducts. Mol Med (1997) 0.87
Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation. J Med Genet (2004) 0.86
Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France. Hum Genet (2003) 0.85
Pancreatic and biliary secretion are both altered in cystic fibrosis pigs. Am J Physiol Gastrointest Liver Physiol (2012) 0.84
Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed (1999) 0.81
Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis. J Pediatr (2015) 0.79
Hyperechogenic fetal bowel. Arch Dis Child Fetal Neonatal Ed (1996) 0.78
Hyperechogenic fetal bowel: an ultrasonographic marker for adverse fetal and neonatal outcome? J Prenat Med (2011) 0.75
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science (1991) 7.16
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med (1991) 4.61
Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society. Med Pediatr Oncol (1997) 3.83
Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology (1975) 3.31
Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics. Hum Genet (1990) 2.33
Primary health care: on measuring participation. Soc Sci Med (1988) 2.27
Maternal serum free beta hCG screening: results of studies including 480 cases of Down syndrome. Prenat Diagn (1994) 2.17
Natural variation of poliovirus neutralization epitopes. Infect Immun (1983) 2.01
Detection of maternal cells in human fetal blood during the third trimester of pregnancy using allele-specific PCR amplification. Br J Haematol (1997) 1.95
CD30-positive large cell lymphomas ('Ki-1 lymphoma') are associated with a chromosomal translocation involving 5q35. Br J Haematol (1990) 1.93
Histiocytosis X histogenetic arguments for a Langerhans cell origin. Biomedicine (1973) 1.90
International, collaborative experience of 1789 patients having multifetal pregnancy reduction: a plateauing of risks and outcomes. J Soc Gynecol Investig (1996) 1.87
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
Molecular cloning and characterization of the human protein kinase D2. A novel member of the protein kinase D family of serine threonine kinases. J Biol Chem (2000) 1.76
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet (1992) 1.70
Direct detection of Legionella species from bronchoalveolar lavage and open lung biopsy specimens: comparison of LightCycler PCR, in situ hybridization, direct fluorescence antigen detection, and culture. J Clin Microbiol (2001) 1.69
A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn (1984) 1.67
Reinfection with rubella in pregnant women. Lancet (1971) 1.67
Serial transabdominal amnioinfusion in the management of gastroschisis with severe oligohydramnios. J Pediatr Surg (1996) 1.54
Is complex gastroschisis predictable by prenatal ultrasound? BJOG (2011) 1.53
Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet (1999) 1.52
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet (1993) 1.50
A cGMP-signaling pathway in a subset of olfactory sensory neurons. Proc Natl Acad Sci U S A (2000) 1.48
Congenital diaphragmatic hernia: can prenatal ultrasonography predict outcome? Am J Obstet Gynecol (1996) 1.47
Monitoring healthcare quality in an obstetrics and gynaecology department using a CUSUM chart. BJOG (2010) 1.45
Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families. Humangenetik (1975) 1.44
Transabdominal versus transcervical and transvaginal multifetal pregnancy reduction: international collaborative experience of more than one thousand cases. Am J Obstet Gynecol (1994) 1.43
SRY-negative XX fetus with complete male phenotype. Lancet (1994) 1.42
Fetal hypertension: an insight into the pathogenesis of the twin-twin transfusion syndrome. Prenat Diagn (2003) 1.40
[Conjoined omphalopagous twins separated at fifteen days of age]. Arch Pediatr (1995) 1.40
Down's syndrome screening in multiple pregnancies using alpha-fetoprotein and free beta hCG. Prenat Diagn (1994) 1.39
[CMV infection: when should medical termination of pregnancy be discussed?]. Gynecol Obstet Fertil (2003) 1.39
Method for first trimester selective abortion in multiple pregnancy. Contrib Gynecol Obstet (1986) 1.38
[Not Available]. Hist Sci Med (1980) 1.37
Esophageal ligature in experimental gastroschisis. J Pediatr Surg (2002) 1.37
The human vertebral column at the end of the embryonic period proper. 1. The column as a whole. J Anat (1980) 1.35
Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. N Engl J Med (1983) 1.35
Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers. Proc Natl Acad Sci U S A (1986) 1.34
[Pericentric inversion of chromosome 2 (p11 q13) in unrelated families (author's transl)]. Humangenetik (1975) 1.31
A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease. J Pediatr (1979) 1.29
Disseminated histiocytosis X: analysis of prognostic factors based on a retrospective study of 50 cases. Cancer (1979) 1.29
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk. Mol Genet Metab (2003) 1.28
Cytogenetics of pregnancy wastage. Adv Hum Genet (1985) 1.28
Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses. Hum Pathol (1981) 1.25
Ontogeny of leptin in human fetuses and newborns: effect of intrauterine growth retardation on serum leptin concentrations. J Clin Endocrinol Metab (1998) 1.24
Induction of labor with mifepristone (RU 486) in intrauterine fetal death. Am J Obstet Gynecol (1990) 1.23
[Permissivity of mouse-man hybrid cell clones to three enteroviruses: poliovirus II, coxsackie B3 and echovirus 11. Role of human chromosome F. 19 (author's transl)]. Pathol Biol (Paris) (1976) 1.20
The structural gene for aldolase B (ALDB) maps to 9q13----32. Ann Hum Genet (1985) 1.19
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet (2000) 1.19
Neonatal effects of maternal administration of acebutolol. Br Med J (Clin Res Ed) (1981) 1.19
Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22). Nucleic Acids Res (1983) 1.17
Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes. Clin Genet (1989) 1.14
First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn (2001) 1.13
Fetal cerebral cortex: normal gestational landmarks identified using prenatal MR imaging. AJNR Am J Neuroradiol (2001) 1.12
Defect of villous cytotrophoblast differentiation into syncytiotrophoblast in Down's syndrome. J Clin Endocrinol Metab (2000) 1.12
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome. J Med Genet (2007) 1.10
First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination. Hum Genet (1986) 1.10
Chromosomal localization of human genes governing the interferon-induced antiviral state. Proc Natl Acad Sci U S A (1975) 1.09
Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk. Am J Hum Genet (1992) 1.09
[Indirect hemagglutination test for detection of antibodies to cytomegalovirus in blood collected on blotting paper (author's transl)]. Pathol Biol (Paris) (1976) 1.08
The reasons for termination of pregnancy in the third trimester. Br J Obstet Gynaecol (1999) 1.08
Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia. Hum Genet (1986) 1.08
Metastatic angiosarcoma masquerading as diffuse pulmonary hemorrhage: clinicopathologic analysis of 7 new patients. Arch Pathol Lab Med (2001) 1.07
Duration of smoking abstinence as a predictor for non-small-cell lung cancer survival in women. Lung Cancer (2005) 1.07
Human placental growth hormone--a review. Placenta (2002) 1.07
Phenotypic expression of lethal chromosomal anomalies in human abortuses. Teratology (1976) 1.06
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. Proc Natl Acad Sci U S A (1991) 1.06
Stability of free beta-subunit in routine practice for trisomy 21 maternal serum screening. Prenat Diagn (1999) 1.06
Fetal lung volume measurement by magnetic resonance imaging in congenital diaphragmatic hernia. BJOG (2001) 1.06
A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. Am J Med Genet (1982) 1.05
Kinematic and electromyographic analysis of rising from a chair during a "Sit-to-Walk" task in elderly subjects: role of strength. Clin Biomech (Bristol, Avon) (2007) 1.04
A molecular approach to dominance in hypophosphatasia. Hum Genet (2001) 1.04
Effect of prednisolone upon normal and pathologic human spermatogenesis. Fertil Steril (1966) 1.03
[Chromosome aberrations in human spontaneous abortion]. Presse Med (1970) 1.02
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. Hum Genet (1998) 1.02
Epithelial modulation of tracheal smooth muscle response to antigenic stimulation. J Appl Physiol (1985) (1986) 1.01
Histiocytosis X. Purified (T6+) cells from bone granuloma produce interleukin 1 and prostaglandin E2 in culture. J Clin Invest (1986) 1.01
Prenatal isolated mild ventriculomegaly: outcome in 167 cases. BJOG (2006) 1.01
Single and repeated dose pharmacokinetics of dexketoprofen trometamol in patients with impaired liver function. Methods Find Exp Clin Pharmacol (2006) 1.01
Direct DNA analysis of fragile X syndrome in Spanish pedigrees. Am J Med Genet (1992) 1.00
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet (1991) 1.00
Analysis of fetal intestinal enzymes in amniotic fluid for the prenatal diagnosis of cystic fibrosis. Am J Hum Genet (1987) 1.00