Clinical Genetics - 2010

274 articles | Last updated: 2025-12-03 14:12:56

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Article Title	Cauc.		White		Euro.		Other		Phrases Used
Article Title	T	A	T	A	T	A	T	A	Phrases Used
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum
Novel mutations of wolframin: a report with a look at the protein structure
Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?
B ‐ Data Analysis in Bioinformatics in Medical Genetics
C ‐ Dermatology and Genetics
F ‐ Genetics Counselling and Predictive Diagnostics
I ‐ Cardio Genetics
J ‐ Personal medical and pharmacogenetic
L ‐ Neurogenetic Diseases and Mental Retardation
M ‐ Pre‐Implantation and Prenatal Genetic Diagnosis
N ‐ Cytogenetics
2 ‐ Oral Presentations
A ‐ Dysmorphology and Multiple Anomalies
D ‐ Epigenetics
E ‐ Gene therapy and therapy on genetic diseases
G ‐ Immunogenetics
H ‐ Cancer genetics
K ‐ Stem Cell Genetics
1 ‐ Speakers’ Texts
X ‐ Late Breaking Abstracts
Huntington's disease in Greece: the experience of 14 years
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE
Ring chromosome 22 and neurofibromatosis type II: proof of two‐hit model for the loss of the <i>NF2</i> gene in the development of meningioma
Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population							✓		Portuguese population
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism
Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome							✓		Ashkenazi Jewish
Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders
Nature and nurture: the complex genetics of myopia and refractive error
Insight into the genetic cause underlying Kabuki syndrome
PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies
Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders
Large structural polymorphisms predispose genomic sequences to disease-causing rearrangements
Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions							✓		Indian patients
A novel <i>C2orf37</i> mutation causes the first Italian cases of Woodhouse Sakati syndrome
Mutational analysis of <i>ABCC2</i> gene in two siblings with neonatal‐onset Dubin Johnson syndrome
A frameshift mutation in <i>SANS</i> results in atypical Usher syndrome
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?
Homozygous null mutations in <i>ZMPSTE24</i> in restrictive dermopathy: evidence of genetic heterogeneity
Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results
Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes
Thromboembolism and coumarin overdosage in a 19‐year‐old female: impact of pharmacogenetics
Identification of a novel mutation in the human <i>PDE6A</i> gene in autosomal recessive retinitis pigmentosa: homology with the <i>nmf28/nmf28</i> mice model
Erratum
Leena Peltonen‐Palotie (1952–2010) A renaissance woman of science
Variable number of tandem repeat polymorphisms (VNTRs) in the <i>ACAN</i> gene associated with pectus excavatum
Paternal mosaicism of an STXBP1 mutation in OS
Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders
Cognitive deficits in Down syndrome: narrowing ‘Down’ to Olig1 and Olig2
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation
An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17
TMEM216 joins its ciliary cousins in ciliopathies
Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations
Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males
Family history, BRCA mutations and breast cancer in Vietnamese women
Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin
Identification of disease-associated DNA methylation in intestinal tissues from patients with inflammatory bowel disease
CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy
Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion
Large genomic rearrangements in mutation‐negative <i>BRCA</i> families: a population‐based study
Hermann Friedberg's case report: an early description of CLOVES syndrome
Uptake of Huntington disease predictive testing in a complete population
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity
Genetic counselor opinions of, and experiences with telephone communication of BRCA1/2 test results
Nature <i>vs</i> nurture: genetic susceptibility and weight loss in hepatic steatosis
DNA repair deficiency in a newly identified neurological disease
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia
Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents
Evolutionary evidence of the effect of rare variants on disease etiology
Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek population							✓		Greek population
Two‐hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes
No loss, no gain: how deletions in our genome contribute to early‐onset obesity
SHANK2 redemption: another synaptic protein for mental retardation and autism
Non-invasive prenatal determination of fetal sex: translating research into clinical practice
Two-hit wonder: A novel genetic model to explain variable expressivity in severe pediatric phenotypes.
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles
Wolfram syndrome and WFS1 gene
A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia
Frequent mutation in North African patients with MUTYH-associated polyposis
Unexpected combination of inherited chorea‐acanthocytosis with MDR3 (<i>ABCB4</i>) defect mimicking Wilson's disease
Lesch‐Nyhan syndrome: a novel complex mutation with severe phenotype
Quality of life and psychological distress in patients with Peutz–Jeghers syndrome
DNA repair deficiency in a newly identified neurological disease
SET(BP1)‐ing the stage for a better understanding of Schinzel—Giedion syndrome
Dr. Hiroshi Furuya (1922-2003)
Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
Defective balancing ability and hyperactivity in the CLX (circling behavior linked to the X-chromosome) mutant rat
A novel link between Tourette's syndrome and histaminergic signalling
SLITRK5, a protein that links striatal deficits to OCD‐like behaviours in mice
Contribution of VANGL2 mutations to isolated neural tube defects
Activities and Announcement
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes
Association of polymorphisms in 9p21 region with CAD in North Indian population: replication of SNPs identified through GWAS
Mendelian susceptibility to mycobacterial disease
Desmin-related myopathy
Exome sequencing: expanding the genetic testing toolbox
Evaluation of phone‐based genetic counselling in African American women using culturally tailored visual aids							✓	✓	African American (AA)
Autosomal recessive <i>LMNA</i> mutation causing Restrictive Dermopathy
Molecular analysis of 30 Niemann-Pick type C patients from Spain
Don't change that (calcium) channel: mutations in the same calcium channel gene can cause multiple distinct phenotypes
Hippocampus development and function: role of epigenetic factors and implications for cognitive disease
Gaucher disease: frequency of the N370S mutation in the Greek population
‘Kir’‐ing thyrotoxic periodic paralysis
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs							✓		Arabs
Patient satisfaction and cancer‐related distress among unselected Jewish women undergoing genetic testing for BRCA1 and BRCA2
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia
Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development
Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2
Novel mutations in the HPS1 gene among Puerto Rican patients
Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?
MicroRNA profiling of multiple osteochondromas: identification of disease‐specific and normal cartilage signatures
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
<i>MUTYH‐</i>associated polyposis – variability of the clinical phenotype in patients with biallelic and monoallelic <i>MUTYH</i> mutations and report on novel mutations
Reproductive decision‐making: a qualitative study among couples at increased risk of having a child with retinoblastoma
A founder mutation in <i>BBS2</i> is responsible for Bardet‐Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders
DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome
Down's syndrome patients are less likely to develop cancer
<i>CHEK2</i>, breast cancer, and the understanding of clinical utility
Evaluation of a multi‐disease carrier screening programme in Ashkenazi Jewish high schools							✓	✓	Ashkenazi Jewish population; Ashkenazi Jewish descent
A severe progressive oculodentodigital dysplasia due to compound heterozygous <i>GJA1</i> mutation
Exome sequencing: locating causative genes in rare disorders
Genetic variants associated with cisplatin‐induced hearing loss
Erratum
Do children with Adams‐Oliver syndrome require endocrine follow‐up? New information on the phenotype and management
High frequency and allele‐specific differences of <i>BRCA1</i> founder mutations in breast cancer and ovarian cancer patients from Belarus
Revealing the human mutome
Genetic factors in non‐syndromic congenital heart malformations
Low predisposition to instability of the Friedreich ataxia gene in Cuban population
Mutational spectrum in the cardiac transcription factor gene <i>NKX2.5</i> (<i>CSX</i>) associated with congenital heart disease
Clinical and <i>in silico</i> evidence for and against pathogenicity of 11 new mutations in the <i>MPZ</i> gene
<i>ERCC6</i> founder mutation identified in Finnish patients with COFS syndrome							✓	✓	Finnish; northern Finland; northeastern village in Finland; founder effect; consanguineous pedigree
RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management
Developmental perspectives on copy number abnormalities of the 22q11.2 region
Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome
The Human Phenotype Ontology
Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
Germline mosaicism in keratitis–ichthyosis–deafness syndrome: pre‐natal diagnosis in a familial lethal form		✓					✓	✓	African non-consanguineous healthy parents
Clinical involvement in daughters of men with fragile X‐associated tremor ataxia syndrome
Chromodomain proteins in development: lessons from CHARGE syndrome
The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to <i>ALG6</i> gene mutations
A marker associated with increased risk for severe liver disease in cystic fibrosis
A folate receptor defect that causes treatable neurological disorder in children
Lipodystrophy and muscular dystrophy caused by PTRF mutations
Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome
Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish							✓		Old Order Amish
<i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
The contribution of founder mutations in <i>BRCA1</i> to breast cancer in Belarus							✓	✓	Eastern Europe; Slavic countries; Belarus; Poland; Russia
Safety and cardiovascular behavior during pulmonary function in patients with Marfan syndrome
PALB2 mutations in European familial pancreatic cancer families					✓	✓			European familial pancreatic cancer families; European Registry of Hereditary Pancreatitis and Famil
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia
Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA
Novel missense mutations in the ubiquitination‐related gene <i>UBE2A</i> cause a recognizable X‐linked mental retardation syndrome
Ancient origin of the <i>CTH</i> alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria							✓	✓	spread throughout Europe; Spanish patients; Czech Republic
<i>NEMO</i> mutation as a cause of familial occurrence of Behçet's disease in female patients
A novel mutation adjacent to the <i>Bth</i> mouse mutation in the <i>TMC1</i> gene makes this mouse an excellent model of human deafness at the DFNA36 locus
Announcement
The Trp117Arg mutation of the <i>COCH</i> gene causes deafness in Koreans
Erratum
FOXL2 mutations in Tunisian patients with blepharophimosis–ptosis–epicanthus inversus syndrome
Osteoglophonic dysplasia: A ‘common’ mutation in a rare disease
High frequency of <i>ETFDH</i> c.250G>A mutation in Taiwanese patients with late‐onset lipid storage myopathy							✓	✓	ethnic Han Taiwanese
Improved structural characterization of chromosomal breakpoints using high resolution custom array‐CGH
Genetics of glucose‐6‐phosphate dehydrogenase deficiency in Saudi patients
Hereditary hemorrhagic telangiectasia: two distinct <i>ENG</i> deletions in one family
Genetics professionals' experiences with grief and loss: implications for support and training
Refining the phenotype associated with <i>MEF2C</i> haploinsufficiency
Novel splice‐site mutations and a large intragenic deletion in <i>PLA2G6</i> associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy
Parental origin of apparently balanced <i>de novo</i> complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite‐mediated haplotype analysis
An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome‐like phenotype in a female patient
Nexilin: a potential novel factor contributing to dilated cardiomyopathy
HDAC7: a viable target in the treatment of cystic fibrosis
<i>De novo</i> nonsense mutations in the sodium channel gene, <i>SCN2A</i>, in sporadic intractable epilepsy
Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress
X‐linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic‐dental phenotypic findings
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel<i>GLB1</i>mutations
Claudins: unlocking the code to tight junction function during embryogenesis and in disease
Erratum
A large cohort study of <i>GJB2</i> mutations in Japanese hearing loss patients							✓	✓	Japanese; ethnic groups; Japanese population
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
The Human Genetics Historical Library: an international resource for geneticists and historians
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
Testing for <i>CHEK2</i> in the cancer genetics clinic: ready for prime time?
Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity
The p.P56S mutation in the <i>VAPB</i> gene is not due to a single founder: the first European case					✓				first European case
Only two mutations detected in 15 Tunisian patients with 11β‐hydroxylase deficiency: the p.Q356X and the novel p.G379V							✓	✓	Tunisian; Arab population
The contribution of founder mutations in <i>BRCA1</i> to breast and ovarian cancer in Lithuania
Death in CHARGE syndrome after the neonatal period
Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan
The role of germline <i>AIP</i>, <i>MEN1, PRKAR1A</i>, <i>CDKN1B</i> and <i>CDKN2C</i> mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syn
A novel DFNB1 deletion allele supports the existence of a distant <i>cis</i>‐regulatory region that controls <i>GJB2</i> and <i>GJB6</i> expression							✓	✓	German–American
Conquering the complex world of human septins: implications for health and disease
Identification and molecular characterization of two novel chromosomal deletions associated with autism
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel <i>GLB1</i> mutations
Two percent of patients suspected of having Angelman syndrome have <i>TCF4</i> mutations
Congenital central hypoventilation syndrome: genotype–phenotype correlation in parents of affected children carrying a <i>PHOX2B</i> expansion mutation
A homozygous <i>FKRP</i> start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency
Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract							✓	✓	consanguineous Danish family of Dutch descent
A new classification system for primary lymphatic dysplasias based on phenotype
Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2
Delineation of 15q13.3 microdeletions
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan							✓	✓	Pakistani population predominantly from the Punjab area
Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome
Variable hearing impairment in a DFNB2 family with a novel <i>MYO7A</i> missense mutation							✓	✓	Iranian, Pakistani
Novel and recurrent p14<sup>ARF</sup> mutations in Italian familial melanoma							✓	✓	Italian
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes <i>PRKCSH</i> and <i>SEC63</i>
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome
Transcripts from a novel <i>BMPR2</i> termination mutation escape nonsense mediated decay by downstream translation re‐initiation: implications for treating pulmonary hypertension
Genetic implications and health consequences following the Chernobyl nuclear accident
Genome‐wide association studies identify new interesting loci for late‐onset Alzheimer's disease
Founder effect of a pathogenic <i>MSH2</i> mutation identified in Spanish families with Lynch syndrome							✓	✓	"Spanish families"; "our population"; "population"
SCN9A: another sodium channel excited to play a role in human epilepsies
Taking a SUMO off a TRP for bad conduct
Does geographical location influence the phenotype of Fabry disease in women in Europe?						✓			European patients; northern or southern European countries; Europe
Mystery behind Bowen–Conradi syndrome solved: a novel ribosome biogenesis defect
Genetics in Hollywood: from real to reel<sup>*</sup>
Co‐occurring diagnoses among <i>FMR1</i> premutation allele carriers							✓	✓	ethnicity/race
Risk‐reducing mastectomy and salpingo‐oophorectomy in unaffected BRCA mutation carriers: uptake and timing<sup>*</sup>
Clinical and molecular aspects of aniridia
Do common <i>in silico</i> tools predict the clinical consequences of amino‐acid substitutions in the CFTR gene?
microRNAs in diseases: from candidate to modifier genes
<i>De novo</i> duplication of <i>MECP2</i> in a girl with mental retardation and no obvious dysmorphic features
Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency							✓	✓	Italian
Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on <scp>l</scp>‐carnitine supplementation
Pink‐creamy whole blood in a 3‐month‐old infant with a homozygous deletion in the lipoprotein lipase gene
Safety and cardiovascular behavior during pulmonary function in patients with marfan syndrome
A novel nonsense mutation in <i>CUL4B</i> gene in three brothers with X‐linked mental retardation syndrome							✓	✓	Polish descent
Mutational study in the<i>PDHA1</i>gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency
Not identical: twins studies to reveal epigenetic differences
Experts' opinions on ethical issues of genetic research into Alzheimer's disease: results of a Delphi study in the Netherlands
Does family history predict the age at onset of new breast cancers in <i>BRCA1</i> and <i>BRCA2</i> mutation‐positive families?
Gene copy number variation and common human disease
Respiratory disease in Niemann‐Pick type C2 is caused by pulmonary alveolar proteinosis
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization
<i>DISC1</i> duplication in two brothers with autism and mild mental retardation
Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension							✓		Chinese
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino‐terminal heterozygous missense lamin A/C mutations
Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma‐prone families
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project							✓	✓	Indian/Asian origin; Indian origin
Holocarboxylase synthetase deficiency: novel clinical and molecular findings		✓					✓	✓	Thai; Thai population; ethnic Thai
Two missense mutations in <i>SLC26A4</i> gene: a molecular and functional study
Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis
Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence <i>in situ</i> hybridization (FISH) in a group of 1000 patients
Treatment‐focused DNA testing for newly diagnosed breast cancer patients: some implications for clinical practice
Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools
Beyond <i>BRCA1</i> and <i>BRCA2</i> wild‐type breast and/or ovarian cancer families: germline mutations in <i>TP53</i> and <i>PTEN</i>
Direct‐to‐consumer genetic testing: good, bad or benign?
<i>DJ‐1</i> is a Parkinson's disease susceptibility gene in southern Italy							✓	✓	southern Italy / coming from southern Italy
A neuronal gene mutation that kills glia
Further genotype – phenotype correlations in neurofibromatosis 2
A K+ channel that channels neurology to nephrology
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age–a sibling control study
Same pathway, different gene: a second gene in the heme biosynthesis pathway causes inherited sideroblastic anemia
X‐linked myopathy: when autophagy goes wrong
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation							✓	✓	Western
Sudden death: ethical and legal problems of post‐mortem forensic genetic testing for hereditary cardiac diseases
Detailed molecular and clinical characterization of three patients with 21q deletions
Multiple spinal ganglioneuromas in a patient harboring a pathogenic <i>NF1</i> mutation
Non‐classic cystic fibrosis associated with D1152H <i>CFTR</i> mutation
Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I
Genetic mutation in pontocerebellar hypoplasia
Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome
Mutational screening of <i>ACVR1</i> gene in Brazilian fibrodysplasia ossificans progressiva patients