Published in Genet Couns on January 01, 2009
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Phosphorylation and activation of B-Myb by cyclin A-Cdk2. Curr Biol (1997) 1.03
Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. Am J Med Genet A (2004) 0.99
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. Am J Med Genet A (2006) 0.97
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype. Clin Genet (2009) 0.96
Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. Genomics (1992) 0.96
A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies. Am J Med Genet (1997) 0.95
Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings. Prenat Diagn (2001) 0.94
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
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet (2002) 0.91
Mulibrey nanism and Wilms tumor. Am J Med Genet (1999) 0.88
Bioactivity of recombinant prorelaxin from the marmoset monkey. Regul Pept (2001) 0.88
Association between trichomoniasis and bacterial vaginosis: examination of 600 cervicovaginal smears. Cent Eur J Public Health (2005) 0.87
The endocrinological evaluation of bilateral and unilateral oophorectomy in premenopausal women. Int J Fertil (1983) 0.86
Familial Williams-Beuren syndrome. Am J Med Genet (1998) 0.83
Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome. Pediatr Surg Int (2000) 0.83
Unexpected death of a 12 year old boy with monosomy 1p36. Genet Couns (2004) 0.82
Vasculogenesis in early human placental villi: an ultrastructural study. Ann Anat (1999) 0.81
Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp. Cytogenet Genome Res (2002) 0.81
Characterization of relaxin binding in the uterus of the marmoset monkey. Mol Hum Reprod (2001) 0.81
Deletion mapping by FISH with BACs in patients with partial monosomy 22q13. Hum Genet (1998) 0.81
Severe complications and gastric carcinoma in Mulvihill-Smith syndrome. J Med Genet (1999) 0.81
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2). Am J Med Genet (2001) 0.80
The importance of 'lumbar lordosis measurement device' application during pregnancy, and post-partum isometric exercise. Eur J Obstet Gynecol Reprod Biol (1989) 0.80
An artificial intelligent diagnostic system on differential recognition of hematopoietic cells from microscopic images. Cytometry (1997) 0.80
Sudden death of a girl with Prader-Willi syndrome. Genet Couns (2002) 0.79
Partial trisomy of 3q detected by chromosome painting in a case of juvenile chronic myelomonocytic leukemia. Cancer Genet Cytogenet (1993) 0.78
No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585. Am J Med Genet (1999) 0.78
Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter. Am J Med Genet A (2010) 0.78
Correlation between plasma malondialdehyde and ceruloplasmin activity values in preeclamptic pregnancies. Clin Biochem (2001) 0.78
A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion. Genet Couns (2003) 0.78
Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation. Genet Couns (2008) 0.78
The association of Candida infection with intrauterine contraceptive device. Cent Eur J Public Health (2005) 0.78
Research on the differentiation of human and murine neuroblastoma cells. Oncology (1991) 0.77
Stress-induced release of cortisol and prolactin during dilatation and curettage under general and local anesthesia. Neuropsychobiology (1984) 0.77
Balanced de novo translocation t(6;7)(p25;q31) and cleft palate as an isolated finding. Genet Couns (2004) 0.77
Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss. Cytogenet Genome Res (2009) 0.76
A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes. Genet Couns (2011) 0.76
FTO and INSIG2 Genotyping Combined with Metabolic and Anthropometric Phenotyping of Morbidly Obese Patients. Mol Syndromol (2013) 0.75
Instant effect of induced abortion on serum ceruloplasmin activity, copper and zinc levels. Arch Gynecol (1987) 0.75
Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis. Genet Couns (2009) 0.75
Early prenatal diagnosis of familial intestinal polyatresia (FIPA) in a 19 weeks old fetus with sonographic and postmortem findings. Genet Couns (2003) 0.75
A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome. Genet Couns (2009) 0.75
[DiGeorge syndrome/velcardiofacial syndrome: oral and maxillofacial surgery]. HNO (2003) 0.75
[Bilateral colobomatous microphthalmus with orbital giant cysts in incomplete tetrasomy 22]. Klin Monbl Augenheilkd (1992) 0.75
An eleven-year-old female Turkish patient with progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis. Clin Exp Rheumatol (2002) 0.75
Influence of metoclopramide and bromocriptine upon the growth of human and murine neuroblastoma cells. Oncology (1990) 0.75
Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Neuropediatrics (1992) 0.75
[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia]. Anaesthesist (2014) 0.75
Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter. Am J Med Genet (2000) 0.75
Non-myelotoxic antitumour effects of L-dopa, buthionine sulphoximine and tamoxifen on neuroblastoma cells in vitro and in vivo. J Cancer Res Clin Oncol (1991) 0.75
Computer-assisted observations of the normal menstrual cycle: predicting the day of ovulation. Fertil Steril (1993) 0.75
Derivative (6)t(1;6)(q22;p21) revealed in bone marrow cells by FISH 9 months before diagnosis of acute T-lymphoblastic leukemia. Cancer Genet Cytogenet (1996) 0.75
Cellular changes in HeLa cells and cervix cells after treatment with cyclic nucleotides. Oncology (1993) 0.75
Burning down DEFECT11. Am J Med Genet (2001) 0.75
Mitral balloon valvuloplasty during pregnancy in developing countries. Eur J Obstet Gynecol Reprod Biol (2001) 0.75
[Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2001) 0.75