Published in Ann Genet on December 01, 1974
De novo interstitial deletion del(1)(p21p32). J Med Genet (1979) 1.43
Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter). J Med Genet (1980) 0.77
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet (2009) 2.37
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Mol Genet (1993) 1.75
Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome. Science (1987) 1.67
Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum Genet (1976) 1.63
Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). Ann Genet (1984) 1.62
[Intercalary deletions of 9q]. Ann Genet (1978) 1.58
[5-21-22 translocation and the crying cat syndrome]. Ann Genet (1965) 1.50
Partial trisomy 9q: a new syndrome. Humangenetik (1975) 1.46
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. Hum Mol Genet (1995) 1.44
Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. Hum Genet (1984) 1.42
[2 familial translocations occurring together in each of 2 sisters, one balanced, the other partial trisomic 10q]. Ann Genet (1972) 1.38
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. Ann Genet (1980) 1.34
Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod (2001) 1.34
[48, XXXX syndrome in a six year old child. Abnormal transmission of group Xg]. Ann Genet (1968) 1.26
[46, XX, 1q-, 2q-, Dq+, 16q+ karyotype in a polymalformed child]. Ann Genet (1968) 1.20
The structural gene for aldolase B (ALDB) maps to 9q13----32. Ann Hum Genet (1985) 1.19
[Study by fluorescence of a trisomy C mosaic, probably 8: 46,XY-47,XY,?8+]. Ann Genet (1971) 1.18
Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers. Hum Genet (1977) 1.17
Distal trisomy 17q. Clin Genet (1979) 1.12
Chromosomal abnormalities and congenital heart disease. Circulation (1967) 1.12
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. J Med Genet (2002) 1.10
Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism. Hum Genet (1987) 1.09
X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female. Clin Genet (1989) 1.09
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. Hum Genet (1986) 1.09
[Distal 14q trisomy]. Ann Genet (1983) 1.09
Are clinical and biological IVF parameters correlated with chromosomal disorders in early life: a multicentric study. Hum Reprod (1988) 1.08
[Chromosome analyses in idiopathic acquired sideroblastic anemia. A study of 6 cases]. Nouv Rev Fr Hematol (1967) 1.06
Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D. Hum Genet (1981) 1.04
Trisomy 18q-. Trisomy mapping of chromosome 18 revisited. Clin Genet (1980) 1.03
Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. Hum Genet (1988) 1.02
Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT1 and PGAMA to subbands 10q26.1 (or q25.3). Ann Genet (1982) 1.01
[Fibroblasts in culture during mucopolysaccharidoses: the effect of serum on metachromasy]. Ann Genet (1968) 1.00
Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band. Humangenetik (1974) 1.00
Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region. Ann Genet (1985) 1.00
[21 p-maternal in duplicate in a case of trisomy 21]. Ann Genet (1970) 0.99
Del11p13/nephroblastoma without aniridia. Hum Genet (1984) 0.99
[Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)]. Ann Genet (1980) 0.99
Chimera and other fertilization errors. Clin Genet (2006) 0.99
A complex familial chromosome translocation. Am J Hum Genet (1965) 0.98
Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet (1999) 0.97
[6-12 13-15 translocation and partial 6-12 trisomy (probably 10)]. Ann Genet (1965) 0.97
Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23. Hum Genet (1982) 0.97
[Partial 7 q trisomy. One or 2 syndromes? Apropos of a new case]. Ann Genet (1976) 0.97
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH. Clin Genet (2012) 0.97
Models for clonal evolutions: a study of chronic myelogenous leukemia. Am J Hum Genet (1966) 0.96
Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients. Cancer Genet Cytogenet (1985) 0.96
Trisomy 18qter and trisomy mapping of chromosome 18. Clin Genet (1977) 0.96
[Distal trisomy 15q]. Ann Genet (1977) 0.96
[Partial trisomy 14q II.--Partial trisomy 14q due to a maternal t(12; 14) (q24.4; q21)]. Ann Genet (1975) 0.96
White blood cell transfusions. Isr J Med Sci (1965) 0.96
Trisomy 6qter. Clin Genet (1981) 0.95
[Partial trisomy for the long arm of a C chromosome (?6) through t(Gp+;Cqs+) translocation]. Ann Genet (1969) 0.95
[Polyploidisation and clonal evolutions]. Ann Genet (1969) 0.95
[Autoradiographic studies of human chromosomes. VII. 5 cases of familial t(DqDq)]. Ann Genet (1970) 0.95
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. Eur J Hum Genet (2001) 0.95
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet (1991) 0.94
[Coagulation factor VII deficiency in 3 patients with trisomy 8]. Ann Genet (1974) 0.94