review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Jacobs PA | |
Cockwell AE | |||
Collins AL | |||
Dennis NR | |||
P2860 | cites work | Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome | Q24312120 |
Turner's syndrome: further demonstration of the presence of specific cognitional deficiencies. | Q33585291 | ||
Three patients with ring (X) chromosomes and a severe phenotype | Q33595450 | ||
Turner syndrome patients with a ring X chromosome | Q34272608 | ||
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome | Q35009254 | ||
The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype | Q35196399 | ||
Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation | Q35442921 | ||
45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome | Q41088045 | ||
Molecular studies of parental origin and mosaicism in 45,X conceptuses | Q41610185 | ||
A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome | Q41728922 | ||
High incidence of mental retardation in Turner syndrome patients with ring chromosome X formation. | Q52061248 | ||
45X/46X,r(X) with syndactyly and severe mental retardation. | Q52073299 | ||
Cognitive development of unselected girls with complete and partial X monosomy. | Q52276239 | ||
Fetal Cystic Hygroma | Q61901863 | ||
Molecular study of 45,X conceptuses: correlation with clinical findings | Q67517800 | ||
Intellegence among persons with Turner's syndrome | Q67583236 | ||
Chromosomal and clinical findings in 110 females with Turner syndrome | Q68212308 | ||
P433 | issue | 7 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 528-533 | |
P577 | publication date | 1994-07-01 | |
P1433 | published in | Journal of Medical Genetics | Q14640281 |
P1476 | title | A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients | |
P478 | volume | 31 |
Q50541208 | A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome. |
Q37212737 | Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis |
Q51533417 | Cytogenetic findings in Serbian patients with Turner’s syndrome stigmata |
Q38492545 | Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression |
Q52122631 | Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay. |
Q29030151 | Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes |
Q24675468 | Optimising management in Turner syndrome: from infancy to adult transfer |
Q40743765 | PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype |
Q34147611 | Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype |
Q52001442 | Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. |
Q38542563 | Update and Review: Supernumerary Marker Chromosomes |
Search more.