| Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals |
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✓ |
✓ |
Icelandic |
| Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2‐q22.1 |
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| Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G→T mutations |
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| Association of <i>Hin</i>cII RFLP of low density lipoprotein receptor gene with obesity in essential hypertensives |
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✓ |
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| Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family |
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✓ |
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✓ |
✓ |
Chinese origin |
| Skin color and cancer mortality among black men in the Charleston Heart Study |
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✓ |
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| Symptomatic heterozygosity in the Ellis‐van Creveld syndrome? |
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| A case of Marden‐Walker syndrome with Dandy‐Walker malformation |
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| Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant |
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| Aplasia cutis congenita and associated disorders: an update |
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| Detection of α‐thalassemia‐1 (Southeast Asian type) and its application for prenatal diagnosis |
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| Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome? |
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| Health care utilization and perceptions of health among adolescents and adults with Turner syndrome |
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| Molecular characterization of trisomic segment 3p24.1→3pter: a case with review of the literature |
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| Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum |
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| Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus |
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| Identification of the valine 408 to methionine mutation in the LDL receptor in a Greek patient with homozygous familial hypercholesterolemia |
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✓ |
✓ |
Greek, Greeks, African Afrikaners, Holland (Dutch) |
| Population frequency of apolipoprotein E5 (Glu3→Lys) and E7 (Glu244→Lys, Glu245→Lys) variants in western Japana |
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✓ |
✓ |
Japanese |
| Clinical and molecular analysis of a Japanese boy with Morquio B disease |
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✓ |
✓ |
Japanese boy |
| The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwa |
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| A rare G6490 → substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients |
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✓ |
✓ |
Italian, Japanese |
| Clinical phenotype associated with terminal 2q37 deletion |
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| Monosomy 21q: two cases of del(21q) and review of the literature |
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| Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q |
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| Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? |
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| A <i>Taq</i>l and a <i>Bam</i>HI polymorphism in the COL4A4 gene on chromosome 2q35‐37 |
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| Characterization of a ring chromosome 21 by FISH‐technique |
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| Late diagnosis of Down syndrome due to incorrect cytogenetic diagnosis and extreme prematurity |
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| A new syndrome with cardiac malformation, cleft lip‐palate, microcephaly and digital anomalies? |
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| Pericentric inversion with a minute deletion of the Y chromosome in a severely oligozoospermic man |
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| Down syndrome and systemic lupus erythematosus |
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| Charcot‐Marie‐Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene |
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| Common genetic variants of lipoprotein lipase that relate to lipid transport in patients with premature coronary artery disease |
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✓ |
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| Molecular genetic analysis of exons 1 to 6 of the APC gene in non‐polyposis familial colorectal cancer |
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| Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling |
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| Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate |
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| Familial transmission of a duplication‐deficiency X chromosome associated with partial Turner syndrome |
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| <i>De novo</i> balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation |
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| Cockayne syndrome type III with high intelligence |
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| Announcements |
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| Evidence for genetic influences on smoking in adult women twins |
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| Familial intestinal polyatresia syndrome |
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| A small supernumerary marker chromosome X identified by <i>in situ</i> hybridization |
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| Risk estimates for developing motor neurone disease in first‐degree relatives |
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| Maternal 3;13 chromosome insertion, with severe pre‐eclampsia |
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| Increased frequency of the rare PstI allele (P2) in a population of CAD patients in Northern Greece |
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✓ |
✓ |
Northern Greek population; Greek population |
| Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal |
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| Antley‐Bixler syndrome and esophageal atresia in a patient with trisomy 21 |
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| Impact of a common mutation of the LDL receptor gene, in French‐Canadian patients with familial hypercholesterolemia, on means, variances and correlations among traits of lipid metabolism |
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✓ |
✓ |
French‐Canadian |
| Retinitis pigmentosa in India: a genetic and segregation analysis |
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| Pelizaeus‐Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (<i>PLP</i>) gene |
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| A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene |
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| Familial mental retardation and progressive spasticity |
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| Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease |
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| Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family |
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✓ |
✓ |
Greek |
| A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to <i>PAX</i> 3 |
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| Clinical and molecular genetic findings in five patients with Miller‐Dieker syndrome |
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| Dinucleotide repeat polymorphism at the human CD59 locus |
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| Acro‐pectoro‐renal field defect with contralateral ureteropelvic junction obstruction |
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| A recombination event in the closely linked plasminogen and apolipoprotein(a) gene loci |
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✓ |
✓ |
Italian family; Japanese families |
| Constitutional heteromorphism of 9q13→q21 in a patient with chronic myelogenous leukemia |
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✓ |
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| Cystic fibrosis mutations and immotile cilia syndrome |
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| Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45,X Turner syndrome ascertained cytogenetically |
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| A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia |
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| Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia |
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| The Pvull restriction site in the second intron of the human steroid 21‐hydroxylase gene CYP21 is polymorphic |
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| A novel insertional mutation of a single base in exon 12 of the dystrophin gene |
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| Sister chromatid exchange in Prader‐Willi syndrome families |
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| Rett syndrome: potential gene sources ‐ phenotypical variability |
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✓ |
✓ |
Swedish |
| The Coffin‐Siris syndrome: data on mental development, language, behavior and social skills in 12 children |
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| Mosaic “tetrasomy” 8p: case report and review of the literature |
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| Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP‐A) patients with various combinations of mutation sites |
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✓ |
✓ |
Japanese |
| Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation |
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|
✓ |
✓ |
Japanese people |
| Sequence and STS of two new single copy DNA markers p21.6A (D6S116) and p21.14A (D6S122) on chromosome region 6q14‐15; D6S122 highly homologous to the Igk chain |
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| Mohr syndrome (oro‐facial‐digital syndrome II) ‐ a familial case with different phenotypic findings |
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| Vascular ring leading to tracheoesophageal compression in a patient with Rubinstein‐Taybi syndrome |
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|
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| Charcot‐Marie‐Tooth disease: molecular characterization of patients from Central and Southern Italy |
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|
✓ |
✓ |
Italians included; patients from Central and Southern Italy |
| Factors influencing whether or not couples seek genetic counselling: an explorative study in a paediatric surgical unit |
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| Announcements |
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| Psychosocial and sexual functioning in women with Turner syndrome |
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|
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| Mild cystic fibrosis disease in three Mexican delta‐F508/G551S compound heterozygous siblings |
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| A BamHI polymorphism in the human cytochrome P450 gene, CYP2D6 |
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| Premature thelarche in Möbius syndrome |
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|
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| Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan |
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✓ |
✓ |
Pakistani family; genetic isolates |
| Event‐related potentials (ERPs) and intelligence in neonatally identified 47, XXY males |
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|
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| Confidentiality in counseling for X‐linked conditions |
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| Variable expression of the popliteal pterygium syndrome in two 3‐generation families |
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| Problems arising in correlating clinical and molecular data in myotonic dystrophy |
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|
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| Identification of a breast tumor with microsatellite instability in a potential carrier of the hereditary non‐polyposis colon cancer trait |
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| Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings |
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|
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| A further report of Brachmann‐de Lange syndrome in two sibs with normal parents |
|
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|
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| A Taql polymorphism in a gene belonging to the human apoprotein(a)‐plasminogen gene family on the telomeric region of chromosome 6 (6q26‐27) |
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|
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| Normal testicular histology in a mid‐trimester 49,XXXXY fetus |
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| Clinical follow up of a girl with “mental retardation with pterygia, shortness and distinct facial appearance” (Haspeslagh syndrome) |
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|
|
| Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease |
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|
✓ |
✓ |
Danish |
| Clinical traits and molecular findings in 46,XX males |
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|
✓ |
✓ |
Mexican males |
| Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non‐related males |
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|
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| Monozygotic twins concordant for Rubinstein‐Taybi syndrome: changing phenotype during infancy |
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| Opitz BBBG syndrome: new family with late‐onset, serious complication |
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| Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch‐Nyhan syndrome |
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|
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| Congenital heart disease in the 48,XXYY syndrome |
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| Joint dislocation and cerebral anomalies are consistently associated with oral‐facial‐digital syndrome type IV |
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|
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| Aplasia of the optic nerve in two cases of partial trisomy 10q24‐ter |
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| Genetics in democratic societies ‐ the Nordic perspective |
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| Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male |
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|
|
| A frequent Hhal polymorphism in intron 9 of the low density lipoprotein receptor gene detected by the denaturing gradient gel electrophoresis technique |
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|
|
| Muscle expression of glucose‐6‐phosphate dehydrogenase deficiency in different variants |
|
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|
✓ |
✓ |
Mediterranean, Seattle‐like, A-variants |
| Image quality in digital chromosome analysis systems |
|
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|
|
| Apolipoprotein E allele frequencies in a South African Indian female population |
|
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|
✓ |
✓ |
South African Indian female population; South Africans of Indian (Asian) ancestry; Indian nurses |
| Pericentric inversions of chromosome 4: report of a new family and review of the literature |
|
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|
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| Central nervous system abnormalities in chromosome deletion at 11q23: is it true? |
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|
|
| Increased frequency of apolipoprotein ε2 allele in non‐insulin dependent diabetic (NIDDM) patients with nephropathy |
|
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|
✓ |
✓ |
general Japanese population |
| Increased and decreased relative risk for noninsulin‐dependent diabetes mellitus conferred by HLA class II and by CD4 alleles |
|
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|
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| Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall |
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| Haspeslagh syndrome without severe mental retardation and pterygia? |
|
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|
|
| Gorlin‐Chaudhry‐Moss or Saethre‐Chotzen syndrome? |
|
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|
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| A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility |
|
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|
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| A highly informative BamHI RFLP in the type IV collagen α5 chain gene (COL4A5) |
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|
|
| Plasma lipids and lipoproteins response to a dietary challenge: analysis of four candidate genes |
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|
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| Familial microcephaly with severe neurological deficits: a description of five affected siblings |
|
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|
|
| Sperm chromosome complements in a man heterozygous for a reciprocal translocation 46,XY,t(9;13)(q21.1;q21.2) and a review of the literature |
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|
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| Hartwig Cleve |
|
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| Congenital cardiac malformations in Adams‐Oliver syndrome |
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| An informative <i>Hindlll</i> polymorphism associated with the βB1 crystallin gene (CRYBB1) on human chromosome 22 |
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| Reply |
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| Announcements |
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| Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome |
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| Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis |
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|
✓ |
✓ |
Japanese |
| Familial benign setting‐sun phenomenon in healthy newborns |
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| Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis |
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| Familial hypertryptophanemia in two siblings |
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| Restriction fragment length polymorphisms at the apoprotein genes AI, CIII and B‐100 and in the 5‘ flanking region of the insulin gene as possible markers of coronary heart disease |
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|
|
German origin |
| Inter‐ and intrafamilial variability in mucolipidosis II (I‐cell disease) |
|
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| Periumbilical skin length measurements in the newborn |
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| New familial association between ocular coloboma and loose anagen syndrome |
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| Genetic analysis of 20 families with autosomal dominant adult polycystic kidney disease from South West Thames Region |
|
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|
✓ |
✓ |
Italian origin |
| Video display terminals: risk of trisomy 18? |
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| Interstitial deletion of 8p: report of two patients and review of the literature |
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|
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| Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M |
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| Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence. A cluster in a rural area of Cauca, Colombia, with more than 200 affected children |
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|
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| Lack of association of apolipoprotein E polymorphism with plasma Lp(a) levels in the Chinese |
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|
|
| Retinitis pigmentosa in Spain |
|
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|
|
✓ |
✓ |
Spanish origin; Spain |
| On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association |
|
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| Molecular cytogenetic studies of duplication 9q32→q34.3 inserted into 9q13 |
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| A case of Alström syndrome associated with diabetes insipidus |
|
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| Spondylo‐camptodactyly syndrome: a distinct autosomal dominant entity? |
|
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| Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister‐Hall syndrome |
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| Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus |
|
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| Mitochondrial gene mutations in familial non‐insulin‐dependent diabetes mellitus in Taiwan |
|
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| A novel missense mutation in exon 3 of the COL4A5 gene associated with late‐onset Alport syndrome |
|
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| Christian's spondylo‐digital syndrome: second familial case |
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| Announcements |
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|
|
| Association between a dimorphic site on chromosome 12 and clinical diagnosis of hypertension in three independent populations |
|
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| Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis |
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| Partial deletion 11q: report of a case with a large terminal deletion 11q21‐qter without loss of telomeric sequences, and review of the literature |
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| Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships |
|
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| 18p monosomy with GH‐deficiency and empty sella: good response to GH‐treatment |
|
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|
| A Taql RFLP in the type IV collagen α5 chain gene (COL4A5) with the rare allele more frequently found in seven Chinese Alport syndrome patients |
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