Published in J Med Genet on July 01, 1998
Mosaic and partial monosomy of chromosome 21 in a case with low platelets count. Iran J Ped Hematol Oncol (2014) 0.75
High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science (1990) 10.72
High resolution R- and G-banding on the same preparation. Hum Genet (1981) 1.94
Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. Am J Med Genet (1995) 1.76
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet (1992) 1.38
Ring 21 chromosome: the mild end of the phenotypic spectrum. Clin Genet (1986) 1.19
Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat. Hum Genet (1979) 1.06
Complete and partial trisomy of different segments of chromosome 8: case reports and review. Clin Genet (1979) 1.04
Partial trisomy 8: further observation of a familial C-G translocation chromosome identified by the Q-staining methods. J Ment Defic Res (1973) 1.02
Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. Am J Med Genet (1995) 1.00
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3). Am J Med Genet (1990) 0.99
Inverted duplication of 8p: ten new patients and review of the literature. Am J Med Genet (1993) 0.99
Characterization of a human chromosome 8 cosmid library constructed from flow-sorted chromosomes. Cytogenet Cell Genet (1992) 0.97
Two cases of 8p trisomy in one sibship. Clin Genet (1975) 0.95
Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1. Ann Genet (1982) 0.93
Familial C-G translocation in three relatives associated with severe mental retardation, short stature, unusual dermatoglyphics and other malformations. J Ment Defic Res (1971) 0.89
U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. Am J Med Genet (1994) 0.86
Duplication 8p syndrome: studies in a family with a reciprocal translocation between chromosomes 8 and 12. Am J Med Genet (1980) 0.86
Ring chromosome 21 in healthy persons: different consequences in females and in males. Hum Genet (1986) 0.85
Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line. Ann Genet (1990) 0.84
Report of a trisomy 8p infant with carrier father. Ann Genet (1978) 0.84
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. J Med Genet (1995) 0.83
Familial transmission of a ring chromosome 21. Clin Genet (1987) 0.83
Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation. J Med Genet (1980) 0.83
8p trisomy in a malformed foetus. Ann Genet (1982) 0.82
Ring chromosome 21 in a phenotypically normal but infertile man. Clin Genet (1985) 0.82
Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p. Hum Genet (1980) 0.82
[Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)]. Ann Genet (1977) 0.81
Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood. Ann Genet (1987) 0.81
Trisomy 8p: unusual origin detected by fluorescence in situ hybridization. Hum Genet (1992) 0.80
Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature. Genet Couns (1995) 0.80
Unbalanced karyotype with normal phenotype in a family with translocation (8;13)(p21;q22). Clin Genet (1985) 0.78
Partial 8 trisomy by 3:1 segregation of balanced maternal translocation t(6q+;8q-). Jinrui Idengaku Zasshi (1985) 0.78
Maternal transmission of ring chromosome 21. Hum Genet (1990) 0.77
Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns (2001) 1.45
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. Eur J Pediatr (1992) 1.44
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet (1994) 1.43
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet (1997) 1.26
The unfolding clinical spectrum of POLG mutations. J Med Genet (2009) 1.14
Further evidence for the location of the BPES gene at 3q2. J Med Genet (1991) 1.13
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res (2000) 1.12
Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). Genet Couns (2004) 1.10
Duplication of chromosome region 8p23.1-->p23.3: a benign variant? Am J Med Genet (2000) 1.04
Genetic heterogeneity in Rieger eye malformation. J Med Genet (1994) 1.00
Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. Am J Med Genet (1995) 1.00
Spontaneous and stimulated release of tumor necrosis factor-alpha (TNF) from blood monocytes of miners with coal workers' pneumoconiosis. Am Rev Respir Dis (1988) 0.98
Letter: Superoxide dismutase in Down syndrome. Lancet (1975) 0.96
Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. Am J Hum Genet (1995) 0.92
Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation. J Med Genet (1977) 0.92
A simple and efficient method for microdissection and microFISH. J Med Genet (1998) 0.90
Oculoauriculovertebral spectrum and cerebral anomalies. J Med Genet (1992) 0.90
Trisomy 7p: report of 2 patients and literature review. Genet Couns (2000) 0.90
Pfeiffer syndrome type 2: further delineation and review of the literature. Am J Med Genet (1998) 0.88
De novo "pure" partial trisomy (6)(p22.1-->pter) in a chromosome 15 with an enlarged satellite, identified by microdissection. Am J Med Genet (2001) 0.87
Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature. Ann Genet (1999) 0.86
Severe phenotypes associated with inactive ring X chromosomes. Am J Med Genet (2000) 0.85
Holoprosencephaly: the Maastricht experience. Genet Couns (2001) 0.85
Oxidative DNA damage and cytogenetic effects in flight engineers exposed to cosmic radiation. Environ Mol Mutagen (1998) 0.85
Strong variable clinical presentation in 3 patients with 7q terminal deletion. Genet Couns (1998) 0.83
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. J Med Genet (1995) 0.83
Clinical and chromosome studies of three patients with Smith-Magenis syndrome. Dev Med Child Neurol (1991) 0.83
Mosaic tetrasomy 8p in two patients: clinical data and review of the literature. Am J Med Genet (1994) 0.83
The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes. Am J Med Genet (1997) 0.82
Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion. Eur J Pediatr (1997) 0.82
Seasonality of pre-ovulatory non-disjunction and the aetiology of Down syndrome. A European collaborative study. Hum Genet (1982) 0.81
Partial trisomy and monosomy 8p due to inversion duplication. Clin Genet (1994) 0.81
Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH. J Med Genet (1996) 0.80
Indoor radon exposure and cytogenetic damage. Lancet (1992) 0.80
Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature. Genet Couns (1995) 0.80
Mosaic expression of hypohidrotic ectodermal dysplasia in an isolated affected female child. Arch Dermatol (1994) 0.80
Assignment of the human gene for endosarcomeric cytoskeletal M-protein (MYOM2) to 8p23.3. Genomics (1999) 0.79
Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clin Genet (1994) 0.79
Application of micro-FISH to delineate deletions. Cytogenet Cell Genet (1996) 0.79
Deletion of the long arm of chromosome 6: two new patients and literature review. Clin Genet (1996) 0.79
Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications. Am J Med Genet (2000) 0.78
Mosaic telomeric (2;14) association in a child with motor delay. Am J Med Genet (2000) 0.77
Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping. Genomics (1997) 0.77
Assignment of the human gene for the sarcomeric M-band protein myomesin (MYOM1) to 18p11.31-p11.32. Genomics (1998) 0.77
Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization. Am J Med Genet (1998) 0.77
Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? J Med Genet (1999) 0.77
Paracentric inversion inv(11)(q21q23) in The Netherlands. Hum Genet (1990) 0.77
Complex chromosome 9, 20, and 22 rearrangements in acute lymphoblastic leukemia with duplication of BCR and ABL sequences. Cancer Genet Cytogenet (2000) 0.76
Serum type III procollagen N-terminal peptide in coal miners. Exp Lung Res (1992) 0.76
Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review. Genet Couns (1996) 0.76
Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH. Hum Genet (1998) 0.76
Parental alpha 1-antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome. Clin Genet (1981) 0.76
Indoor radon, an extrapulmonary genetic risk? Lancet (1994) 0.75
Anencephaly in monozygotic twins and recurrence risk. Prenat Diagn (1998) 0.75
A mutation in the protein S pseudogene is linked to protein S deficiency in a thrombophilic family. Thromb Haemost (1989) 0.75
Analysis of oxidative DNA damage and HPRT mutant frequencies in cancer patients before and after radiotherapy. Mutat Res (1999) 0.75
Lateral facial clefts: a case report. Genet Couns (2001) 0.75
A patient with a de novo 11q24.2-->qter deletion. Genet Couns (2004) 0.75
11Q duplication in a patient with Pitt-Rogers-Danks phenotype. Am J Med Genet (1996) 0.75
Down syndrome and religious groups. Lancet (1978) 0.75
Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish. Genet Couns (1999) 0.75
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Am J Med Genet (1999) 0.75
14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies. Genet Couns (2000) 0.75
Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding. Am J Med Genet (1999) 0.75
Terminal deletion of long arm of chromosome 4: patient report and literature review. Genet Couns (1993) 0.75
Mild phenotype in interstitial 4p deletion: another patient and review of the literature. Genet Couns (1997) 0.75
Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH. Genet Couns (2000) 0.75
[The parental origin of the extra chromosome 21 in Down's syndrome]. Tijdschr Kindergeneeskd (1983) 0.75
On the origin of recurrent trisomy 21: determination using chromosomal and DNA polymorphisms. Clin Genet (1987) 0.75
An adult patient with a distal interstitial 14q deletion: clinical report and literature review. Genet Couns (2000) 0.75
De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism. Genet Couns (2000) 0.75
De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH. Am J Med Genet (2001) 0.75