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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_1/m/print http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_1/m/web
Date Copyrighted	2000
Rights	Journal of Medical Genetics
issue	1
is Is Part Of of	Risk of multisystem disease in isolated ocular angioma (haemangioblastoma) Appendiceal carcinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1) Biallelic expression of IGFBP1 andIGFBP3, two candidate genes for the Silver-Russell syndrome NF2gene deletion in a family with a mild phenotype An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14 Molecular diagnosis is important to confirm suspected pseudoachondroplasia A search for evidence of somatic mutations in theNF1 gene Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis Friedreich ataxia: an overview A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) Absence of fragile X syndrome in Nova Scotia Mutational analysis of the tuberous sclerosis geneTSC2 in patients with pulmonary lymphangioleiomyomatosis A case of inv dup(8p) with early onset breast cancer The molecular genetics of Marfan syndrome and related microfibrillopathies Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? Prevalence of mitochondrial gene mutations among hearing impaired patients Prevalent connexin 26 gene (GJB2) mutations in Japanese Cryptic subtelomeric translocations in the 22q13 deletion syndrome Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43

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