Published in Ann Genet on March 01, 1972
Studies of a family with incontinentia pigmenti variably expressed in both sexes. J Med Genet (1982) 0.91
[Neuropathological study of incontinentia pigmenti. Anatomical case report (author's transl)]. Acta Neuropathol (1977) 0.81
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
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
[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
[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
A case of?6p- chromosomal aberration. Am J Dis Child (1968) 1.12
Distal trisomy 17q. Clin Genet (1979) 1.12
Chromosomal abnormalities and congenital heart disease. Circulation (1967) 1.12
Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism. Hum Genet (1987) 1.09
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. Hum Genet (1986) 1.09
X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female. Clin Genet (1989) 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
Measurement of static compliance of the total respiratory system in patients with acute respiratory failure during mechanical ventilation. The effect of intrinsic positive end-expiratory pressure. Am Rev Respir Dis (1985) 1.00
[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
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
[21 p-maternal in duplicate in a case of trisomy 21]. Ann Genet (1970) 0.99
A complex familial chromosome translocation. Am J Hum Genet (1965) 0.98
[Partial 7 q trisomy. One or 2 syndromes? Apropos of a new case]. Ann Genet (1976) 0.97
Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23. Hum Genet (1982) 0.97
[6-12 13-15 translocation and partial 6-12 trisomy (probably 10)]. Ann Genet (1965) 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
[De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child]. Ann Genet (1974) 0.96
Trisomy 18qter and trisomy mapping of chromosome 18. Clin Genet (1977) 0.96
[Distal trisomy 15q]. Ann Genet (1977) 0.96
White blood cell transfusions. Isr J Med Sci (1965) 0.96
[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
Trisomy 6qter. Clin Genet (1981) 0.95
[Coagulation factor VII deficiency in 3 patients with trisomy 8]. Ann Genet (1974) 0.94
[F fing chromosome (46, XY, Fr) in a boy with multiple abnormalities]. Ann Genet (1972) 0.93
[Localization of the gene for ribulose-5-phosphate-3-epimerase on the 2q32 to 2qter segment by interspecies cellular hybridization]. Ann Genet (1982) 0.93
Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma. Hum Genet (1989) 0.93
[Chromosomal studies from cell cultures. Technical modifications]. Ann Genet (1970) 0.93
Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome). Hum Genet (1987) 0.93
[Demonstration of the fine structure of human chromosomes by enzymatic digestion (especially pronase)]. C R Acad Sci Hebd Seances Acad Sci D (1971) 0.92
[Deletion of the short arm of a 13-15 chromosome, hypertelorism and Hp0 haptoglobin phenotype in the same family]. Ann Genet (1966) 0.92
[Fetomaternal transfusion of blood lymphocytes and identification of the sex of the fetus]. Ann Genet (1971) 0.91
[Heterozygosity and homozygosity for a pericentric inversion of human chromosone 3]. Ann Genet (1974) 0.91
Aneusomie de recombinaison: three further examples. Am J Hum Genet (1966) 0.91
Cytogenetic analysis and developmental capacity of normal and abnormal embryos after IVF. Hum Reprod (1989) 0.90
Chromosome investigations in early life. II. Human preimplantation embryos. Hum Reprod (1987) 0.90
[Chromosome anomalies in generalized scleroderma. A study of 6 patients]. C R Acad Sci Hebd Seances Acad Sci D (1969) 0.90
Monosomy 10qter. Hum Genet (1979) 0.90
Chromosome analysis of human oocytes and embryos: does delayed fertilization increase chromosome imbalance? Hum Reprod (1988) 0.89
[Regional localization of the genes for human IDHs, MDHs PGK, alphaGAL, G6PD by interspecific hybridization (author's transl)]. Hum Genet (1977) 0.88
Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. Am J Med Genet (1989) 0.88
6q1 monosomy: a distinctive syndrome. Clin Genet (1988) 0.88
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature. Clin Genet (1984) 0.88
[Triploid (69, XXX) child having lived for 9 days]. Ann Genet (1974) 0.88
[Monosomy 7qter (author's transl)]. Ann Genet (1979) 0.87
Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X. Am J Med Genet (1990) 0.87
Embryonic testicular regression syndrome and severe mental retardation in sibs. Ann Genet (1985) 0.87
Genetic diseases, chromosome rearrangements, and malignancy. Ann Intern Med (1966) 0.86
Physical map around the retinoblastoma gene: possible genomic imprinting suggested by NruI digestion. Genomics (1991) 0.86
Beckwith-Wiedemann syndrome. Clinical comparison between patients with and without 11p15 trisomy. Ann Genet (1985) 0.86
[Excess of males in trisomy 21 (author's transl)]. Ann Genet (1979) 0.85
[Comparative karyotyping of our gibbon species or subspecies (author's transl)]. Ann Genet (1982) 0.85
Molecular detection of constitutional deletions in patients with retinoblastoma. Am J Med Genet (1991) 0.85
Panel of twenty-five independent man-rodent hybrids for human genetic marker mapping. Ann Genet (1986) 0.84
[Modification of an X chromosome, 6-12 in a trisomic 21]. Ann Genet (1965) 0.84
[Sex linked mental deficiency, unusual facies, macroorchidism and fragile site on chromosome X (author's transl)]. Ann Genet (1979) 0.84
[Extracardiac malformations associated with congenital cardiopathies (statistical study of 1000 cases)]. Acta Genet Med Gemellol (Roma) (1967) 0.84
[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34]. Ann Genet (1978) 0.84
From oocyte to embryo: a model, deduced from in vitro fertilization, for natural selection against chromosome abnormalities. Ann Genet (1987) 0.84
Mapping of the gene for glutathione reductase on chromosome 8. Ann Genet (1976) 0.83
Gonadoblastoma in gonadal dysgenesis: a report of two cases with 46,XY-45,X mosaicism. J Pediatr (1969) 0.83
Chromosomal breakage in diffuse scleroderma. A study of 27 patients. Rev Eur Etud Clin Biol (1972) 0.83
[Interstitial deletion in the long arm of chromosome 7]. Ann Genet (1988) 0.83
[Exclusion of certain autosomal localizations of blood and serum group genes]. Ann Genet (1966) 0.83
Catalase determination in various etiologic forms of Wilms' tumor and gonadoblastoma. Cancer Genet Cytogenet (1983) 0.83
NM1 keratinocytes display biochemical markers of keratinization. J Invest Dermatol (1989) 0.83
The beta amyloid protein (AD-AP) cDNA hybridizes in normal and Alzheimer individuals near the interface of 21q21 and q22.1. Ann Genet (1987) 0.82
Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. Hum Genet (1981) 0.82
Investigations on the chromosomal localizations of the human and chimpanzee interferon genes: possible role of chromosomes 9 and 13. Ann Genet (1980) 0.82
[ Chromosome analysis of a clonal development in a case of myeloid leykemia]. Nouv Rev Fr Hematol (1966) 0.82
[Cytogenic and biochemical studies of 8 cases of Fanconi's anemia]. Ann Genet (1972) 0.82
[The heart in Turner-Ullrich syndrome. (Study of 26 personal cases and review of cases comprising a chromosomal study)]. Arch Mal Coeur Vaiss (1966) 0.81
Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome. Ann Genet (1988) 0.81
Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion. Ann Genet (1983) 0.81