Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene E. K. BijlsmaP. MerelT. J. M. Hulsebos Original Investigation Pages: 1 - 5
A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease Tadashi ArigaYukio SakiyamaShuzo Matsumoto Original Investigation Pages: 6 - 8
Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature Suzanne DemczukAnnie LévyAlain Aurias Original Investigation Pages: 9 - 13
Transferable clastogenic activity in plasma from patients with Fanconi anemia I. EmeritA. LevyA. Zatterale Original Investigation Pages: 14 - 20
Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia Catherine SassLouise-Marie GirouxAnne Minnich Original Investigation Pages: 21 - 26
Allelotyping of follicular thyroid tumors Jan ZedeniusGöran WallinCatharina Larsson Original Investigation Pages: 27 - 32
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36 Hans EibergAllan Meldgaard LundThomas Rosenberg Original Investigation Pages: 33 - 38
Identification of the origin of double minutes in normal human cells by laser-based chromosome microdissection approach Evica Rajcan-SeparovicHung-Shu WangJoh-E. Ikeda Original Investigation Pages: 39 - 43
The X-chromosomal human biglycan gene BGN is subject to X inactivation but is transcribed like an X-Y homologous gene Claudia GeerkensUlrich VetterWalther Vogel Original Investigation Pages: 44 - 52
Maternal origin of nucleated erythrocytes in peripheral venous blood of pregnant women Anna Slunga-TallbergWa'el El-RifaiSakari Knuutila Original Investigation Pages: 53 - 57
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias J. BonaventureF. ChaminadeP. Maroteaux Original Investigation Pages: 58 - 64
Familial reciprocal translocation t(17;19) (q11.2;q13.2) associated with neurofibromatosis type 1, including one patient with non-Hodgkin lymphoma and an additional t(14;20) in B lymphocytes Raimund FahsoldThomas HabashRudolf A. Pfeiffer Original Investigation Pages: 65 - 69
Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation Angenita F. van LieburgMarian A. J. VerdijkNine V. A. M. Knoers Original Investigation Pages: 70 - 78
Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region Viviane DumurElisabeth TrivierAndré Hanauer Original Investigation Pages: 79 - 82
Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family Salomé de AlmeidaEdgar de AlmeidaMateus Martins Prata Original Investigation Pages: 83 - 88
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families Mónica BayésDiana ValverdeRoser Gonzàlez-Duarte Original Investigation Pages: 89 - 94
Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene Peter N. RobinsonAnnett BöddrichPeter Nürnberg Short Communication Pages: 95 - 98
Human glutamine: fructose-6-phosphate amidotransferase: characterization of mRNA and chromosomal assignment to 2p13 Jianxin ZhouJohn L. NeidighDonald A. McClain Short Communication Pages: 99 - 101
Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis A. NordenskjöldG. FrickeM. Anvret Short Communication Pages: 102 - 104
A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency Ernst SteyrerSabine HaubenwallnerRudolf Zechner Short Communication Pages: 105 - 109
Detection and characterization of new mutations in the human angiotensinogen gene (AGT) James E. HixsonPatricia K. Powers Short Communication Pages: 110 - 112
Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome Daniela SteinbergerJohn B. MullikenUlrich Müller Short Communication Pages: 113 - 115
Ordering of markers in the pericentromeric region of chromosome 10 Robert M. W. HofstraTineke StelwagenCharles H. C. M. Buys Short Communication Pages: 116 - 118
Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature Cathy M. Tuck-MullerHarold ChenWladimir Wertelecki Case Report Pages: 119 - 129
Detection of a CfoI polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4) Ortrud Steinlein OriginalPaper Pages: 130 - 130
A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level Vinciane RégnierGisèle DanglotAlain Bernheim OriginalPaper Pages: 131 - 132
