Published in Eur J Med Genet on August 12, 2008
Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice. J Neurochem (2011) 1.01
Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes. PLoS One (2011) 0.82
TCF12 microdeletion in a 72-year-old woman with intellectual disability. Am J Med Genet A (2015) 0.79
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case. Korean J Pediatr (2015) 0.75
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms. Cancer Res (2007) 3.19
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood (2013) 2.27
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet (2003) 2.25
Vaginal cuff dehiscence after hysterectomy: a multicenter retrospective study. Eur J Obstet Gynecol Reprod Biol (2011) 2.00
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N Engl J Med (2014) 1.89
XX males SRY negative: a confirmed cause of infertility. J Med Genet (2011) 1.75
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. Nephrol Dial Transplant (2009) 1.62
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol (2011) 1.61
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet (2007) 1.56
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2010) 1.53
Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation. Blood (2012) 1.48
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. J Med Genet (2007) 1.45
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25. Genome Res (2003) 1.44
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A (2008) 1.41
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case. Hum Pathol (2011) 1.40
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet (2009) 1.39
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet (2010) 1.36
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet (2008) 1.27
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet (2013) 1.26
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet (2008) 1.20
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet (2008) 1.19
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. Eur J Hum Genet (2006) 1.18
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet (2012) 1.16
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet (2008) 1.16
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. Hum Mutat (2007) 1.14
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod (2006) 1.14
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat (2007) 1.14
In vivo functional dissection of human inner kinetochore protein CENP-C. J Struct Biol (2002) 1.14
Reciprocal translocations: a trap for cytogenetists? Hum Genet (2005) 1.12
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion. Blood (2011) 1.12
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics (2008) 1.11
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. Eur J Hum Genet (2008) 1.11
The introduction of arrays in prenatal diagnosis: a special challenge. Hum Mutat (2012) 1.07
Role of p75 neurotrophin receptor in the neurotoxicity by beta-amyloid peptides and synergistic effect of inflammatory cytokines. J Exp Med (2002) 1.06
Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease. Exp Hematol (2009) 1.06
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Prenat Diagn (2011) 1.03
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. Hum Genet (2010) 1.02
Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer. Hum Pathol (2011) 1.02
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet (2007) 1.01
Histopathologic features and risk factors for benignity, hyperplasia, and cancer in endometrial polyps. Am J Obstet Gynecol (2003) 1.01
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain (2013) 1.00
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Eur J Hum Genet (2010) 1.00
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. Eur J Hum Genet (2012) 1.00
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur J Med Genet (2007) 0.99
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Hum Mutat (2010) 0.97
Unexpected results in the constitution of small supernumerary marker chromosomes. Eur J Med Genet (2012) 0.97
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. J Child Neurol (2012) 0.97
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet A (2005) 0.97
Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker. Blood (2009) 0.96
Delivery and immigration: the experience of an Italian hospital. Eur J Obstet Gynecol Reprod Biol (2004) 0.96
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. Eur J Hum Genet (2008) 0.95
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. Hum Genet (2009) 0.95
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype. Eur J Hum Genet (2005) 0.94
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia (2009) 0.94
Cell-free fetal DNA concentration in plasma of patients with abnormal uterine artery Doppler waveform and intrauterine growth restriction--a pilot study. Prenat Diagn (2003) 0.92
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet (2007) 0.91
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. Am J Hum Genet (2006) 0.90
Inverted duplications: how many of them are mosaic? Eur J Hum Genet (2004) 0.90
Frequent loss of expression of the cyclin-dependent kinase inhibitor p27(Kip1) in estrogen-related Endometrial adenocarcinomas. Clin Cancer Res (2003) 0.89
Narrowing the deleted region associated with the 15q21 syndrome. Eur J Med Genet (2005) 0.89
Evolutionary and clinical neocentromeres: two faces of the same coin? Chromosoma (2008) 0.89
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. Nephrol Dial Transplant (2007) 0.88
PRKACB and Carney complex. N Engl J Med (2014) 0.88
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion. Eur J Hum Genet (2008) 0.87
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability. Ital J Pediatr (2009) 0.87
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling. Hum Mol Genet (2013) 0.87
High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma. Hum Pathol (2009) 0.86
20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb. Am J Med Genet (2002) 0.86
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. Eur J Hum Genet (2004) 0.86
Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma. Neuro Oncol (2008) 0.86
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. Eur J Hum Genet (2006) 0.86
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. Eur J Med Genet (2012) 0.86