A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients

scientific article

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1136/JMG.31.7.528
P932PMC publication ID1049974
P698PubMed publication ID7966189
P5875ResearchGate publication ID15233429

P2093author name stringJacobs PA
Cockwell AE
Collins AL
Dennis NR
P2860cites workFunctional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndromeQ24312120
Turner's syndrome: further demonstration of the presence of specific cognitional deficiencies.Q33585291
Three patients with ring (X) chromosomes and a severe phenotypeQ33595450
Turner syndrome patients with a ring X chromosomeQ34272608
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patientsQ34685121
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosomeQ35009254
The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotypeQ35196399
Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardationQ35442921
45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndromeQ41088045
Molecular studies of parental origin and mosaicism in 45,X conceptusesQ41610185
A cytogenetic and molecular reappraisal of a series of patients with Turner's syndromeQ41728922
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 HygromaQ61901863
Molecular study of 45,X conceptuses: correlation with clinical findingsQ67517800
Intellegence among persons with Turner's syndromeQ67583236
Chromosomal and clinical findings in 110 females with Turner syndromeQ68212308
P433issue7
P407language of work or nameEnglishQ1860
P304page(s)528-533
P577publication date1994-07-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titleA comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients
P478volume31

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cites work (P2860)
Q50541208A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.
Q37212737Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis
Q51533417Cytogenetic findings in Serbian patients with Turner’s syndrome stigmata
Q38492545Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression
Q52122631Lack 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.
Q29030151Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes
Q24675468Optimising management in Turner syndrome: from infancy to adult transfer
Q40743765PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype
Q34147611Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype
Q52001442Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.
Q38542563Update and Review: Supernumerary Marker Chromosomes

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