Published in Clin Genet on April 01, 1987
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet (1993) 1.37
Microdeletion syndromes, balanced translocations, and gene mapping. J Med Genet (1988) 1.22
Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). J Med Genet (1991) 1.22
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet (2013) 1.09
Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. J Med Genet (1989) 1.05
Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J Med Genet (1994) 1.00
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet (1991) 0.94
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24). J Med Genet (1992) 0.85
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. J Med Genet (1997) 0.80
The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report. J Orthod (2013) 0.79
Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76
Human chromosome 8. J Med Genet (1988) 0.75
TRPS1 gene alterations in human subependymoma. J Neurooncol (2017) 0.75
A synopsis of the human Y chromosome. Hum Genet (1980) 1.54
Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography. J Med Genet (1972) 1.39
The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? Am J Med Genet (1984) 1.28
Non-condensation of one segment of a chromosome No. 2 in a male with an otherwise normal karyotype (and severe hypospadias). Humangenetik (1970) 1.22
[Multiple malformations in partial trisomy C (12) as manifestation of an inherited E-C (18/12) translocation]. Helv Paediatr Acta (1967) 1.13
Cat-eye syndrome, a partial trisomy 22. Humangenetik (1972) 1.07
[Familial mosaicism with G ring]. Humangenetik (1969) 1.04
Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? Hum Genet (1983) 1.01
Trisomy 8 mosaicism. A case report and a proposed list of the clinical features. Eur J Pediatr (1976) 1.00
Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr (1980) 0.97
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. J Med Genet (1992) 0.91
Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping. Ann Genet (1983) 0.90
Fluorescence pattern of a dicentric Y. Humangenetik (1971) 0.88
A strongly fluorescing abnormal chromosome in a malformed child. Humangenetik (1971) 0.85
Premature centromere division: a possible manifestation of chromosome instability. Am J Med Genet (1995) 0.84
Mapping of a small phosphopeptide at the carboxyterminus of the viral myb protein by monoclonal antibodies. Oncogene (1989) 0.84
Monoclonal antibodies against the viral and human cellular myb gene product. Haematol Blood Transfus (1987) 0.81
Variant of the fluorescence pattern in an abnormal human Y chromosome. Nature (1971) 0.81
Water intoxication in a cretinoid infant. J Clin Endocrinol Metab (1966) 0.80
Factor IXBasel: a Swiss family with severe haemophilia B having a point mutation in EGF type B domain. Nucleic Acids Res (1991) 0.80
[Congenital leukemia with chromosome aberrations (Trisomy G) in a non-mongoloid child]. Helv Paediatr Acta (1974) 0.80
[Normałtrisomy C mosaicism in a feeble-minded child from a family with a G1 -- Dk translocation]. Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg (1964) 0.80
Correspondence. N Engl J Med (1970) 0.79
Banding techniques in the evaluation of human chromosomal variants. Humangenetik (1973) 0.79
Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II. Hum Genet (1986) 0.78
Differential expression of the oncoproteins c-myc and c-myb in human lymphoproliferative disorders. Eur J Cancer (1990) 0.78
Cryotherapy modifies synthetic activity and differentiation of keloidal fibroblasts in vitro. Exp Dermatol (2003) 0.77
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. Genet Couns (2002) 0.77
Y-body in hair roots. Humangenetik (1971) 0.77
[Offsprings of balanced fusion and translocation heterozygotes]. Helv Paediatr Acta (1965) 0.77
Incidental finding of double minutes (DM), single minutes (SM), homogenously staining regions (HSR), premature chromosome condensation (PCC), and premature centromere division (PCD)? Ann Genet (1987) 0.76
[45,X/46,SYq dic-Sexchromosome mosaic]. Humangenetik (1975) 0.76
[A rare structural anomaly of the Y chromosome: Y ring (author's transl)]. Arch Genet (Zur) (1974) 0.76
Some remarks regarding the search for a genetic basis for Rett syndrome. Hum Genet (1991) 0.75
Non-fluorescent Y-chromosome. Helv Paediatr Acta (1974) 0.75
Workshop on intraspinal transplantation and clinical application. J Neurotrauma (1994) 0.75
Loss of the Y chromosome from bone marrow cells of males with myeloproliferative disorders. Report of two cases and review of the literature. Acta Haematol (1977) 0.75
[DNA diagnostics in hemophilia A and B]. Schweiz Med Wochenschr (1989) 0.75
[A human chromosome translocation from the eighteenth century]. Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg (1967) 0.75
Reverse banding in the human Y chromosome. Lancet (1973) 0.75
[The XO-XY sex chromosome mosaicism]. Humangenetik (1969) 0.75
The effect of SH-SS transition in the structural organization of mitotic chromosomes. Hum Genet (1978) 0.75
Resolution limitations for tailored picture-generating freeform surfaces. Opt Express (2012) 0.75
Letter: R-banding of the Y chromosome: base sequence, strandedness, repetitiveness, and protein association of D.N.A. Lancet (1973) 0.75
[A new method of sex determination in leukocytes from dired blood stains]. Schweiz Med Wochenschr (1971) 0.75
45,X/46,XY/47,XYY mosaicism in a phenotypic female with gonadoblastoma. Acta Paediatr Acad Sci Hung (1974) 0.75
[Sex chromosome abnormalities]. Ther Umsch (1986) 0.75
XYY chromosomal complement, proven by fluorescence, in a child with trisomy 21:48,XYY,21+. Humangenetik (1971) 0.75
Letter: Deletion of chromosome 7 in polycythaemia vera. Lancet (1974) 0.75
Sequence of centromere separation in cultured human amniotic cells. Acta Biol Hung (1983) 0.75
Late separating D/D fusions in subjects with "balanced" translocation. Ann Genet (1991) 0.75
Q-banding of human chromosomes after BUdR and BCdR treatment. Hum Genet (1976) 0.75
[Roberts-SC phocomelia syndrome]. Gynakol Geburtshilfliche Rundsch (2001) 0.75
[A new chromosome syndrome: trisomy 8 mosaicism]. Orv Hetil (1977) 0.75
[COX-2-expression in extragenital endometriosis lesions as a novel therapeutical approach?]. Zentralbl Gynakol (2003) 0.75
[Response of human growth hormone to anesthesia induction with propofol]. Anaesthesist (1988) 0.75
[Non-ketotic hyperglycinemia: peracute course in neonatal period]. Helv Paediatr Acta (1971) 0.75
[Translocation trisomy 4q in 2 siblings as a sequela of paternal balanced reciprocal translocation: t(1;4)(q44;q31)]. Monatsschr Kinderheilkd (1990) 0.75
[Heterochromatin, fluorescence and structure anomalies of Y-chromosome]. Arch Genet (Zur) (1972) 0.75
A variant of the fra(X) syndrome. Hum Genet (1982) 0.75
Prenatal diagnosis in balanced D/D translocations. J Genet Hum (1975) 0.75
Partial trisomy 22--an old case reexamined. Hum Genet (1985) 0.75
[Prenatal diagnosis in balanced D/D translocation carriers]. Monatsschr Kinderheilkd (1975) 0.75
Satellite DNA III and alkaline Geimsa staining. Humangenetik (1975) 0.75
The incidence of deep-seated mycoses in Freiburg i. Br. (Federal Republic of Germany). Mycoses (1988) 0.75