Published in Eur J Med Genet on January 05, 2010
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. Orphanet J Rare Dis (2014) 1.47
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet J Rare Dis (2011) 1.40
Current research on pycnodysostosis. Intractable Rare Dis Res (2014) 1.16
Effect of Growth Hormone treatment on Height Velocity of Children with Pycnodysotosis. Iran J Pediatr (2014) 0.81
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis. BMJ Case Rep (2012) 0.79
Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings. Int J Clin Exp Med (2014) 0.76
Papilledema from craniosynostosis in pycnodysostosis. Pediatr Neurol (2014) 0.75
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia (2010) 6.23
Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet (2005) 4.47
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Angiocentric neuroepithelial tumor (ANET): a new epilepsy-related clinicopathological entity with distinctive MRI. Brain Pathol (2005) 2.46
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40
CHARGE syndrome: an update. Eur J Hum Genet (2007) 2.03
Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord (2005) 2.03
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet (2007) 2.02
Functional variants of the HMGA1 gene and type 2 diabetes mellitus. JAMA (2011) 2.00
Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A (2009) 1.96
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet (2013) 1.87
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol (2009) 1.78
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet (2007) 1.65
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61
Proposed criteria for referral and evaluation of children for epilepsy surgery: recommendations of the Subcommission for Pediatric Epilepsy Surgery. Epilepsia (2006) 1.52
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Eur J Med Genet (2008) 1.52
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet (2011) 1.48
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. Hum Mutat (2007) 1.47
Orofaciodigital syndrome with cerebral dysgenesis. Am J Med Genet A (2006) 1.45
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A (2009) 1.44
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation (2004) 1.44
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep (2012) 1.43
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet (2012) 1.41
Rituximab in subacute sclerosing panencephalitis. Eur J Paediatr Neurol (2006) 1.39
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat (2004) 1.36
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther (2007) 1.34
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry (2009) 1.32
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet (2012) 1.30
Late plasticity for language in a child's non-dominant hemisphere: a pre- and post-surgery fMRI study. Brain (2002) 1.29
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Acute neurological involvement in diarrhea-associated hemolytic uremic syndrome. Clin J Am Soc Nephrol (2010) 1.23
Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A (2007) 1.22
Quantifying the use of bioresources for promoting their sharing in scientific research. Gigascience (2013) 1.22
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology (2009) 1.19
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A (2007) 1.18
Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes. Nat Commun (2010) 1.17
Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant. Blood Cells Mol Dis (2010) 1.14
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat (2010) 1.14
L-type Ca2+ channels mediate adaptation of extracellular signal-regulated kinase 1/2 phosphorylation in the ventral tegmental area after chronic amphetamine treatment. J Neurosci (2004) 1.12
Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg (2003) 1.12
Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr (2003) 1.11
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics (2007) 1.11
Neuroprotective effects of dexmedetomidine against glutamate agonist-induced neuronal cell death are related to increased astrocyte brain-derived neurotrophic factor expression. Anesthesiology (2013) 1.09
Embryonic depletion of serotonin affects cortical development. Eur J Neurosci (2007) 1.08
Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet (2011) 1.08
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity. J Clin Endocrinol Metab (2005) 1.08
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat (2010) 1.08
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat (2011) 1.07
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. Hum Mutat (2005) 1.06
Microcephaly. Handb Clin Neurol (2013) 1.05
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. Eur J Paediatr Neurol (2007) 1.04
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Eur J Med Genet (2010) 1.04
Microstructural development of human brain assessed in utero by diffusion tensor imaging. Pediatr Radiol (2006) 1.04
Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate? Neurosurgery (2007) 1.03
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrol Dial Transplant (2010) 1.03
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase. Blood Cells Mol Dis (2012) 1.02
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet (2009) 1.02
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol (2009) 1.02
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet (2009) 1.01
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet (2003) 0.99
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. Am J Med Genet A (2009) 0.98
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet (2008) 0.98
Fetal MRI: normal gestational landmarks for cerebral biometry, gyration and myelination. Childs Nerv Syst (2003) 0.98
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. Hum Mutat (2005) 0.98
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta (2011) 0.97
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Hum Genet (2010) 0.97
CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Stud Health Technol Inform (2008) 0.96
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. Eur J Hum Genet (2008) 0.96
Clinical utility gene card for: Rothmund-Thomson syndrome. Eur J Hum Genet (2012) 0.96
Dysmorphology and the orbital region: a practical clinical approach. Surv Ophthalmol (2004) 0.95
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts. J Inherit Metab Dis (2012) 0.95
Surgical management of hypothalamic hamartomas with epilepsy: the stereoendoscopic approach. Neurosurgery (2006) 0.95
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Eur J Hum Genet (2012) 0.94
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A (2014) 0.94
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet (2005) 0.94
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet (2005) 0.93
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Am J Med Genet A (2013) 0.93
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat (2012) 0.93
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One (2012) 0.93