Published in Turk J Pediatr on July 01, 1966
The genetics of phenylthiocarbamide perception. Ann Hum Biol (2001) 1.59
Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. N Engl J Med (1978) 4.34
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature (1988) 3.82
The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. Cell (1979) 2.41
Maternal serum free beta hCG screening: results of studies including 480 cases of Down syndrome. Prenat Diagn (1994) 2.17
Poor prognosis in children with acute nonlymphoblastic leukemia in Turkey. Am J Pediatr Hematol Oncol (1988) 1.95
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet (1997) 1.89
Impaired endothelial function in patients with ankylosing spondylitis. Rheumatology (Oxford) (2005) 1.65
Congenital aplasia of the thymus gland (DiGeorge's syndrome). N Engl J Med (1968) 1.49
Chronic hemolytic anemia associated with glucose 6-phosphate dehydrogenase (Guadalajara)1 159 C --> T (387 Arg --> Cys) deficiency associated with Gilbert syndrome in a Turkish patient. Pediatr Hematol Oncol (2002) 1.43
Gonadal dysgenesis in a patient with an X;3 translocation: case report and review. J Med Genet (1980) 1.40
Fanconi aplastic anemia associated with beta-thalassemia trait. Am J Hematol (1996) 1.38
Dermatoglyphic findings in Laurence-Moon-Biedl syndrome. Lancet (1973) 1.38
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Eur J Hum Genet (1999) 1.36
A search for anomalies in the zeta, alpha, beta, and gamma globin gene arrangements in normal black, Italian, Turkish, and Spanish newborns. Hemoglobin (1989) 1.35
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. Blood (2000) 1.29
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. N Engl J Med (1970) 1.27
Spondylocostal dysplasia and neural tube defects. J Med Genet (1991) 1.26
Role of the lymphocyte in antihemophilic globulin production: a rise in antihemophilic globulin levels in a hemophilic subject with acute lymphoblastic leukemia. J Lab Clin Med (1971) 1.25
The molecular basis of Hb H disease in Turkey. Hemoglobin (1997) 1.24
Duplication-deficiency product of a pericentric inversion in man: a cause of D 1 trisomy syndrome. J Pediatr (1973) 1.20
Contribution of fetal/maternal incompatibility to aetiology of pre-eclamptic toxaemia. Lancet (1971) 1.16
A locus for Fanconi anemia on 16q determined by homozygosity mapping. Am J Hum Genet (1996) 1.15
Beta-thalassemia in Turkey. Hemoglobin (1990) 1.14
Beta S haplotypes in various world populations. Hum Genet (1992) 1.14
Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+). J Med Genet (1980) 1.09
Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence. Birth Defects Orig Artic Ser (1976) 1.09
Hereditary defect of the sacrum. Humangenetik (1975) 1.07
Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers. J Med Genet (1986) 1.07
Importance of RDW value in differential diagnosis of hypochrome anemias. Am J Hematol (2002) 1.07
Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia. J Clin Invest (1979) 1.05
Pattern profile analysis of the hand in trichlorhinophalangeal syndrome. Pediatrics (1977) 1.04
Aspects of pre-eclamptic toxaemia of pregnancy, consanguinity, twinning in Ankara. J Med Genet (1976) 1.03
Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients. Am J Hematol (1993) 1.02
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. Am J Hum Genet (1999) 1.02
The G----A mutation at position +22 3' to the Cap site of the beta-globin gene as a possible cause for a beta-thalassemia. Hemoglobin (1991) 1.01
Association of birth defects and immunodeficiency. J Pediatr (1979) 1.01
A homozygote for pericentric inversion of chromosome 4. J Med Genet (1982) 0.99
Geophagia associated with iron-deficiency anemia, hepatosplenomegaly, hypogonadism and dwarfism. A syndrome probably associated with zinc deficiency. Clin Pediatr (Phila) (1969) 0.98
Community genetics. I. J Okla State Med Assoc (1975) 0.98
Epstein-Barr virus (EBV)-specific cell-mediated and humoral immune responses in ataxia-telangectasia patients. J Clin Immunol (1984) 0.96
Congenital factor 13 deficiency. Observation of two new cases in the newborn period. Am J Dis Child (1971) 0.96
An A gamma type of nondeletional hereditary persistence of fetal hemoglobin with a T----C mutation at position -175 to the cap site of the A gamma globin gene. Blood (1989) 0.96
The levels of zeta, gamma, and delta chains in patients with Hb H disease. Hum Genet (1989) 0.95
The oculocerebrocutaneous (Delleman) syndrome. J Med Genet (1988) 0.94
A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? Lancet (1968) 0.94
Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs. J Pediatr (1976) 0.94
Molecular analysis of the Turkish form of deletion-inversion (delta beta)(0) thalassaemia. Br J Haematol (1997) 0.93
Hydrops fetalis due to homozygosity for alpha-thalassemia-1, -(alpha)-20.5 kb: the first observation in a Turkish family. Acta Haematol (1989) 0.93
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet (2000) 0.93
Hemoglobin alpha chain deficiency in black children with variable quantities of hemoglobin Bart's at birth. Pediatr Res (1977) 0.93
Two novel arrangements of the human fetal globin genes: G gamma-G gamma and A gamma-A gamma. Nucleic Acids Res (1984) 0.93
Immunodeficiency in children with severe craniofacial anomalies. South Med J (1982) 0.92
Cervico-ocula-acusticus syndrome of Wildervanck. Case report. Turk J Pediatr (1973) 0.92
Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin. Am J Dis Child (1982) 0.91
The G-immunoglobulins in acute leukemia in children. Hematologic and immunologic relationships. Blood (1969) 0.91
A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia. Blood (1989) 0.91
Mental retardation with blepharophimosis. J Med Genet (1987) 0.90
Cholecystosonography in children with sickle cell disease: technical approach and clinical results. J Clin Ultrasound (1981) 0.89
The relative levels of alpha 2-, alpha 1-, and zeta-mRNA in HB H patients with different deletional and nondeletional alpha-thalassemia determinants. Biochim Biophys Acta (1996) 0.88
Phototherapy in nonobstructive, nonhemolytic jaundice. Pediatrics (1973) 0.88
A new Turkish type of beta-thalassaemia major with homozygosity for two non-consecutive 7.6 kb deletions of the psi beta and beta genes and an intact delta gene. Br J Haematol (1995) 0.87
Hb E and Hb E-like variants in individuals from Turkey. Hemoglobin (1981) 0.87
Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand). Clin Dysmorphol (1993) 0.87
Role of protein C in childhood cerebrovascular occlusive accidents. Eur J Pediatr (1989) 0.87
Letter: Birth defects and oral contraceptives. Lancet (1973) 0.86
The Ggamma deltabeta-thalassemia and Ggamma-betaO-hpfh conditions in combination with beta-thalassemia and Hb S. Am J Hematol (1977) 0.86
Familial selective vitamin B12 malabsorption in three families. Turk J Pediatr (1980) 0.85
Autoimmune hemolytic anemia with warm antibodies in children: retrospective analysis of 51 cases. Turk J Pediatr (2000) 0.85
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Turkey. Haematologica (2000) 0.85
Partial deletion 21: case report with biochemical studies and review. J Med Genet (1987) 0.85
3C syndrome: another case. Clin Genet (1989) 0.84
Beta-thalassemia due to a T----A mutation within the ATA box. Biochem Biophys Res Commun (1988) 0.84
Letter: Fanconi's anemia in offspring of patient with congenital radial and carpal hypoplasia. N Engl J Med (1975) 0.84
Additional evidence for a deleted gene for serum alpha-1-antitrypsin. N Engl J Med (1973) 0.84
Evidence for the existence of the PAF acetylhydrolase mutation (Val279Phe) in non-Japanese populations: a preliminary study in Turkey, Azerbaijan, and Kyrgyzstan. Thromb Res (2001) 0.84
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Am J Med Genet (1998) 0.84
An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome? J Med Genet (1981) 0.84
HLA antigens associated with Behçet's disease. Arch Dermatol (1977) 0.83
Usefulness of pulse-wave Doppler tissue sampling and dobutamine stress echocardiography for identification of false positive inferior wall defects in SPECT. Jpn Heart J (2000) 0.83
Familial deletion of chromosome 18 (p11.2). Ann Genet (1996) 0.83
Cytogenetic findings in acute monocytic leukemia in a renal allograft recipient. Cancer Genet Cytogenet (1986) 0.83
Nitroblue tetrazolium test in children with malnutrition. J Pediatr (1972) 0.83
Familial trigonocephaly associated with short stature and developmental delay. Am J Dis Child (1981) 0.82
Ghosal haemato-diaphyseal dysplasia: a new disorder. Eur J Pediatr (1993) 0.82
Detection of a familial cryptic translocation by fluorescent in situ hybridisation. J Med Genet (1996) 0.82
The chemical heterogeneity of the fetal hemoglobin of black newborn babies and adults: a reevaluation. Blood (1981) 0.82
Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome. Clin Dysmorphol (2003) 0.82
Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family. Br J Haematol (1999) 0.81
Acute lymphoblastic leukemia in a child with hemoglobins S and Q-Iran. Turk J Pediatr (1991) 0.81
Coffin-Siris syndrome. Am J Dis Child (1978) 0.81
A case of hypereosinophilic syndrome associated with factor V Leiden mutation and thrombosis. Br J Haematol (1998) 0.81
Cerebro-oculo-nasal syndrome: another case and review of the literature. Clin Dysmorphol (1998) 0.81
Chromosome aberration in ectopia cordis (46,XX,17q+) Am Heart J (1978) 0.81
Goodpasture's syndrome (pulmonary hemosiderosis with nephritis). Clin Pediatr (Phila) (1976) 0.81