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Clinical Genetics - 2008

193 articles | Last updated: 2025-12-03 14:12:56
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Article Title Cauc. White Euro. Other Phrases Used
T A T A T A T A
Studies on the Induction of Sister Chromatid Exchange in Human Fibroblasts by Diethylstilbestrol
Atypical Down syndrome and partial trisomy 21
Results of genetic screening of donors for artificial insemination
Clouston syndrome: an ultrastructural study
Myotonic dystrophy: from linkage with secretor status to mutation detection
Direct molecular diagnosis of myotonic dystrophy
Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling
Evidence of chromosome 9 origin of the euchromatic variant band within 9qh
Inheritance of intrahepatic cholestasis of pregnancy in one kindred
Family studies in Bechterew's syndrome (ankylosing spondylitis) III. Genetics
Predicting zygosity in Norwegian twin pairs born 1915-1960
Admixture analysis of high density lipoprotein cholesterol distribution in a Jerusalem population sample
A probable monogenic form of polyostotic fibrous dysplasia
Letter to the Editors
Announcement
DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome
PCR analysis of a three-allelic PvuII-RFLP at D4S127 closely linked to the Huntington disease locus
Identical psychological profile and behaviour pattern in different types of mutation in the FMR-1 region
Announcement
Mucolipidosis II. The clinical, radiological and biochemical features in three cases
An investigation into the frequency of mitral valve prolapse in von Willebrand disease
Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23)
Marden-Walker syndrome: case report, literature review and nosologic discussion
Two siblings with mental retardation and progressive spasticity
A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p-syndrome*
Basilar impression and syringomyelia in a patient with tricho-rhino-phalangeal syndrome type I
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula ✓ ✓ Portuguese, Spanish, Iberian, Iberian Peninsula, Iberian patients
ATM, an unexpected new target in metabolic syndrome
Hypophosphatasia update: recent advances in diagnosis and treatment
Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with <i>PLP1 </i>gene duplications
Genetic modifiers of ataxin‐3‐mediated neurodegeneration: approaching protein misfolding from different angles
A new function of TFIIH explains the neurological symptoms in trichothiodystrophy
Analysis of the involvement of the <i>NR2E3</i> gene in autosomal recessive retinal dystrophies
Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa ✓ Uses 'Mexican American' and 'ancestral mutation derived from North Africa' to refer to ancestry/popu
A locus for autosomal dominant progressive non‐syndromic hearing loss, <i>DFNA27</i>, is on chromosome 4q12‐13.1
Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia
Cardioembolic stroke in Danon disease
<i>FOXN1</i> homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus
DNA methylation and mental retardation
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in‐house‐designed synthetic probe set for multiplex ligation‐dependent probe amplification analysis
Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the <i>VCP </i>R155H mutation in an Italian family and implications for genetic counselling ✓ ✓ Italian family
Family history as a predictor of uptake of cancer preventive procedures by women with a <i>BRCA1</i> or <i>BRCA2</i> mutation
Sugar coats on proteins, not always as sweet as they sound!
First case of compound heterozygosity in <i>ALS2 </i>gene in infantile‐onset ascending spastic paralysis with bulbar involvement
Cytogenetic and molecular characterization of a three‐generation family with chromosome 5p terminal deletion
Genetic factors in congenital heart malformation
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index ✓ ✓ Italian patients
<i>CHD7 </i>mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome ✓ ✓ Swedish
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel <i>APOB </i>gene mutations
A novel mutation in the <i>FOXC1 </i>gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly
Progress toward cell‐directed therapy for phenylketonuria
Mutation analysis of the <i>FLCN </i>gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax ✓ ✓ Chinese
Molecular analyses of <i>GCH‐1</i>, <i>TH </i>and <i>parkin </i>genes in Chinese dopa‐responsive dystonia families ✓ ✓ Chinese; Han ethnic group
The role of evidence‐based medicine and clinical trials in rare genetic disorders
Cathepsin S genotypes are associated with Apo‐A1 and HDL‐cholesterol in lean and obese French populations ✓ ✓ French populations
Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis
Mutation analysis of <i>TMC1 </i>identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11 ✓ ✓ Turkish
Metachromatic leukodystrophy – mutation analysis provides further evidence of genotype–phenotype correlation
Gaucher disease diagnosed in a 30‐year‐old black man ✓ black
Alterations in the <i>SMARCB1 </i>(<i>INI1</i>) tumor suppressor gene in familial schwannomatosis
A novel 19‐bp deletion of exon 15 in the <i>HMBS </i>gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack
Attitudes of couples identified through screening as carriers of Gaucher disease type 1 ✓ ✓ Ashkenazi Jews (and the phrase 'Ashkenazi Panel')
Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)
A new STAR on the horizon
Seckel syndrome: when developmental pathways determining brain and body size go wrong
Carrier screening for cystic fibrosis in US genetic testing laboratories: a survey of laboratory directors
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia‐causing mutations
A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties
A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
<i>CHD7</i> mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome
The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development ✓ ✓ racial disparities
ALAS, our frailty is the cause … of a new for form of protoporphyria
MMP2 promoter polymorphism (C‐1306T) and risk of recurrence in patients with hepatocellular carcinoma after transplantation
Molecular and clinical features associated with <i>CFTR</i> gene rearrangements in Italian population: identification of a new duplication and recurrent deletions
Prader–Willi syndrome phenocopy due to duplication of Xq21.1–q21.31, with array CGH of the critical region
CMT4J: Charcot–Marie–Tooth disorder caused by mutations in <i>FIG4</i>
The impact of genetic testing for Crohn’s disease, risk magnitude and graphical format on motivation to stop smoking: an experimental analogue study
Homeobox genes in vertebrate forebrain development and disease
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families ✓ Chinese
Probability of <i>BRCA1/2</i> mutation varies with ovarian histology: results from screening 442 ovarian cancer families
Mapping of a new autosomal recessive non‐syndromic hearing impairment locus (DFNB45) to chromosome 1q43‐q44
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48‐month longitudinal cohort study
The epigenetic origins of mental retardation
Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the <i>myelin transcription factor 1</i> gene (<i>MYT1</i>)
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations
<i>ATM</i> germline mutations in Spanish early‐onset breast cancer patients negative for <i>BRCA1/BRCA2</i> mutations ✓ ✓ Spanish
Little people, big discovery
The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces
<i>CACNA1A </i>R1347Q: a frequent recurrent mutation in hemiplegic migraine
Mowat–Wilson syndrome: an underdiagnosed syndrome?
Corrigendum
Erratum
Severe congenital encephalopathy caused by <i>MECP2 </i>null mutations in males: central hypoxia and reduced neuronal dendritic structure
<i>FBN1 </i>mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel <i>FBN1 </i>mutations
Tietz syndrome: unique phenotype specific to mutations of <i>MITF </i>nuclear localization signal
Knowledge and impressions regarding the concept of mutation among Japanese university students
The skeletal manifestations of the congenital disorders of glycosylation
Investigating genetic discrimination in Australia: a large‐scale survey of clinical genetics clients
A novel mutation in the <i>GDAP1 </i>gene is associated with autosomal recessive Charcot–Marie–Tooth disease in an Amish family ✓ ✓ Old Order Amish; Ohio Old Order Amish community
Multiple independent second‐site mutations in two siblings with somatic mosaicism for Wiskott–Aldrich syndrome ✓ ✓ Ukrainian
Birth defects before epigenesis
Variable phenotypes associated with 10q23 microdeletions involving the <i>PTEN </i>and <i>BMPR1A </i>genes
Genetic aspects of human congenital diaphragmatic hernia
<i>Alu</i>‐related 5q35 microdeletions in Sotos syndrome
Genetic variations in the leptin and leptin receptor genes are associated with type 2 diabetes mellitus and metabolic traits in the Korean female population
Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations
Phenotypic discordance in a pair of monozygotic twins with Huntington’s disease
X‐linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the <i>HGSNAT</i> gene
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function
Predictive testing for Huntington disease in a developing country ✓ ✓ ✓ ✓ European ancestry; mixed ancestry
<i>RPGRIP1L</i> mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders
<i>CDKL5 </i>disruption by t(X;18) in a girl with West syndrome
Attitudes antecedent to transition to self‐management of a chronic genetic disorder
Depression during pregnancy: the potential impact of increased risk for fetal aneuploidy on maternal mood
Hope for treatment of nephronophthisis and related ciliopathies
Anderson’s disease (chylomicron retention disease): a new mutation in the <i>SARA2 </i>gene associated with muscular and cardiac abnormalities
MicroRNA epigenetic alterations: predicting biomarkers and therapeutic targets in human diseases
MicroRNAs in development and disease
A thorough <i>MECP2 </i>mutation analysis
<i>STXBP1</i>: the second synaptic vesicle release gene involved in epilepsy
Williams–Beuren syndrome: novel risk alleles in transmitting parents
Common <i>vs </i>rare variants and a case for neurodevelopment in schizophrenia
Psychosocial outcome following genetic risk counselling for familial colorectal cancer. A comparison of affected patients and family members
The rate of germline mutations and large deletions of <i>SMAD4 </i>and <i>BMPR1A </i>in juvenile polyposis
A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12‐p35.1
Refining the phenotype of <i>α‐1a Tubulin </i>(<i>TUBA1A</i>) mutation in patients with classical lissencephaly
Victor A. McKusick, M.D.: A legend in his own time
Inheritance of ankyloglossia (tongue‐tie)
The impact of familial environment on depression scores after genetic testing for cancer susceptibility
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene ✓ ✓ Polish
Radiotherapy for childhood cancer and risk for congenital malformations in offspring: a population‐based cohort study
Estrogen receptor status in CHEK2‐positive breast cancers: implications for chemoprevention
Cilia get serious: Meckel–Gruber and Bardet–Biedl syndromes represent a spectrum of allelic disorders
Novel rare mutations and promoter haplotypes in ABCA1 contribute to low‐HDL‐C levels
Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with <i>MECP2 </i>mutation resulting in Rett syndrome
<i>LRP6</i>: a link between the multiple disorders of the metabolic syndrome
<i>RPGRIP1</i>: a novel ciliary gene involved in cerebellar disorders
Compound heterozygosity in the <i>SPG4 </i>gene causes hereditary spastic paraplegia
Mucolipidosis II: a single causal mutation in the <i>N</i>‐acetylglucosamine‐1‐phosphotransferase gene (<i>GNPTAB</i>) in a French Canadian founder population ✓ ✓ French Canadian founder population; Saguenay–Lac‐Saint‐Jean (SLSJ) (Quebec, Canada); founder effect;
Corrigendum
Three new patients with dup(17)(p11.2p11.2) without autism
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3‐q35.2 ✓ ✓ Italian family
Advances in the genetics of sarcoidosis ✓ ✓ different ethnic groups; specific populations
Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region‐wise heterogeneity
Three novel mutations in the <i>PORCN</i> gene underlying focal dermal hypoplasia
Loss of dynamic histone regulation underlies mental retardation
Huntington disease‐like 2: the first patient with apparent European ancestry ✓ ✓ ✓ ✓ apparent European ancestry; European extraction; being of European ancestry; African ancestry; African HDL2 haplotype; various ethnicities; highly mixed populations
A re‐examination of the chromosome 8p22‐8p23.1 region in Kabuki syndrome
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency ✓
Genotyping microarray as a novel approach for the detection of<i> ATP7B </i>gene mutations in patients with Wilson disease ✓ ✓ Czech and Slovak populations
Genetic causes of chronic pancreatitis: the elucidation of genetic contributions to a disorder once thought to have none
Corrigendum
Severe mandibuloacral dysplasia caused by novel compound heterozygous <i>ZMPSTE24 </i>mutations in two Japanese siblings ✓ ✓ Japanese; Japanese origin
Genomic and functional analyses of <i>MUTYH</i> in Japanese patients with adenomatous polyposis ✓ ✓ Japanese; East Asia
Silent exonic mutations in the low‐density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21‐q23 ✓ ✓ Japanese, Chinese, Taiwanese, Chinese families, Bedouin family from Saudi Arabia, Arab family
Corrigendum
Erratum
Homozygous <i>FGF3 </i>mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
Concurrent microdeletion and duplication of 22q11.2
A novel deletion mutation in <i>LIPH</i> gene causes autosomal recessive hypotrichosis (LAH2) ✓ ✓ Pakistani
Early age‐of‐onset iron overload and homozygosity for the novel hemojuvelin mutation <i>HJV </i>R54X (exon 3; c.160A→T) in an African American male of West Indies descent ✓ ✓ African American; of West Indies descent
Age and origin of the G774A mutation in<i>SLC22A12</i>causing renal hypouricemia in Japanese ✓ ✓ Japanese, Koreans, Asian continent, Jomon people, Yayoi people, immigrant(s) from the continent
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a <i>SEPT9 </i>gene mutation – a family study
Genetic heterogeneity and minor <i>CYP1B1 </i>involvement in the molecular basis of primary congenital glaucoma in Gypsies ✓ ✓ Gypsies; Roma/Gypsies; Slovak Roma; Gypsy population
Autism‐associated familial microdeletion of Xp11.22
Detection of a significant association between mutations in the <i>ACVRL1 </i>gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia
Increased release and activity of matrix metalloproteinase‐9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22‐23
Laminopathies in Russian families
Identification of a p.Ser81Arg encoding mutation in <i>SLC2A10</i> gene of arterial tortuosity syndrome patients from 10 Qatari families
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing <i>LAF4</i>
MLPA and cDNA analysis improves <i>COL4A5</i> mutation detection in X‐linked Alport syndrome
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland
Segmental maternal UPD(7q) in Silver–Russell syndrome
<i>Cardiac troponin T </i>mutation in familial cardiomyopathy with variable remodeling and restrictive physiology
<i>LAMA2</i> gene analysis in a cohort of 26 congenital muscular dystrophy patients
Age‐dependent risks in genetic counseling for spinocerebellar ataxia type 2
Confirmation of <i>RAX</i> gene involvement in human anophthalmia
Ghosal syndrome – genetics unveiled
The genetic basis of uric acid variance
Promoting ectopic pancreatic fates: pancreas development and future diabetes therapies
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the <i>NIPBL </i>and <i>SMC1L1 </i>genes
Adaptation to living with a genetic condition or risk: a mini‐review
Takahashi’s response to Ravn’s correspondence
Squalene synthase: a critical enzyme in the cholesterol biosynthesis pathway
A diagnostic tattoo
The genetics of antiplatelet drug resistance
LeaPIN’ toward the cause of myoglobinuria in childhood