about
Specific Genetic Disorders and Autism: Clinical Contribution Towards their IdentificationMolecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activationCHARGE syndrome: an updateWDR62 is associated with the spindle pole and is mutated in human microcephalyNephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsIdentification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeMichels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndromeNicolaides-Baraitser syndrome: Delineation of the phenotypeDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeLamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyGermline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeHeterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosisVIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signalingAlbinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritanceSMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.The mutation spectrum in RECQL4 diseases.SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.Microcephaly.Myhre and LAPS syndromes: clinical and molecular review of 32 patients.Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?Dysmorphology and the orbital region: a practical clinical approach.Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome.Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.Clinical utility gene card for: WAGR syndrome.The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patientsDissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.
P50
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P50
name
Alain Verloes
@ast
Alain Verloes
@en
Alain Verloes
@nl
type
label
Alain Verloes
@ast
Alain Verloes
@en
Alain Verloes
@nl
prefLabel
Alain Verloes
@ast
Alain Verloes
@en
Alain Verloes
@nl