Published in Clin Genet on March 01, 2005
De novo deletion in MECP2 in a monozygotic twin pair: a case report. BMC Med Genet (2011) 0.76
Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome. Mol Syndromol (2014) 0.76
Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene. Genomic Med (2008) 0.75
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet (1999) 3.93
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol (2000) 2.71
Is there a neurologist on this flight? Neurology (2002) 2.44
A point mutation in the glutamate binding site blocks desensitization of AMPA receptors. Neuron (1998) 2.18
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet (1995) 1.95
C-kit mutations in core binding factor leukemias. Blood (2000) 1.93
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology (2010) 1.93
MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett (2000) 1.82
Morphologic precursors of ovarian epithelial tumors. Obstet Gynecol (1993) 1.70
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet (1995) 1.64
Local and sustained delivery of 5-fluorouracil from biodegradable microspheres for the radiosensitization of glioblastoma: a pilot study. Cancer (1999) 1.60
Small thymus in very low birth weight infants born to mothers with subclinical chorioamnionitis. J Pediatr (1999) 1.59
Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome. Lancet (2001) 1.58
Evaluation of the CTrach--an intubating LMA with integrated fibreoptic system. Br J Anaesth (2006) 1.57
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 1.57
Expression of functional chemokine receptors CXCR3 and CXCR4 on human melanoma cells. J Biol Chem (2001) 1.52
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet (2005) 1.51
Etiology and risk factors of severe and protracted diarrhea. J Pediatr Gastroenterol Nutr (1995) 1.49
Accuracy of radial arterial pressure measurement during surgery under controlled hypotension. Acta Anaesthesiol Scand (2002) 1.48
Nitric oxide pathway, Ca2+, and serotonin content in platelets from patients suffering from chronic daily headache. Cephalalgia (1999) 1.48
Hypoplastic or absent mandibular frenulum: a new predictive sign of infantile hypertrophic pyloric stenosis. J Pediatr (2000) 1.46
Trilayer graphene is a semimetal with a gate-tunable band overlap. Nat Nanotechnol (2009) 1.45
Rett syndrome and plasma leptin levels. J Pediatr (2007) 1.44
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet (2011) 1.42
Laparoscopic versus traditional fundoplication in the treatment of children with refractory gastro-oesophageal reflux. Ital J Gastroenterol Hepatol (1997) 1.39
[Unique cerebral metastasis of ovarian origin]. Presse Med (1998) 1.38
Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines. Oncogene (2006) 1.37
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev (2008) 1.34
Baseline staging tests after a new diagnosis of breast cancer: further evidence of their limited indications. Ann Oncol (2005) 1.31
LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet (1999) 1.29
Acute abdomen due to small bowel anisakiasis. Dig Liver Dis (2005) 1.25
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet (2004) 1.25
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer (2001) 1.24
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev (2009) 1.23
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet (2007) 1.22
Evaluation of Serratia peptidase in acute or chronic inflammation of otorhinolaryngology pathology: a multicentre, double-blind, randomized trial versus placebo. J Int Med Res (1991) 1.22
Familial non-medullary thyroid carcinoma displays the features of clinical anticipation suggestive of a distinct biological entity. Endocr Relat Cancer (2008) 1.22
Preserved speech variant is allelic of classic Rett syndrome. Eur J Hum Genet (2000) 1.20
Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet (2001) 1.20
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet (2009) 1.19
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. Ann Neurol (1999) 1.16
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics (1998) 1.16
A tumor suppressor locus in familial and sporadic chordoma maps to 1p36. Int J Cancer (2000) 1.15
Aspergillus fumigatus-induced allergic airway inflammation alters surfactant homeostasis and lung function in BALB/c mice. Am J Respir Cell Mol Biol (2001) 1.15
PAF produced by human breast cancer cells promotes migration and proliferation of tumor cells and neo-angiogenesis. Am J Pathol (2000) 1.14
Possible case of Pitt-Hopkins syndrome in sibs. Am J Med Genet (2001) 1.12
Short-time non-enzymatic nitric oxide synthesis from L-arginine and hydrogen peroxide induced by shock waves treatment. FEBS Lett (2002) 1.12
RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia. Hum Mol Genet (2000) 1.11
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. Am J Med Genet (2000) 1.10
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. Int J Cancer (1998) 1.10
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet (2000) 1.09
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet (2014) 1.08
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears. Eur J Med Genet (2007) 1.08
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. Clin Genet (2001) 1.07
Shot noise in ballistic graphene. Phys Rev Lett (2008) 1.07
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A (2009) 1.06
Unilateral megalencephaly with nerve cell hypertrophy. An anatomical and quantitative histochemical study. Brain Res (1968) 1.06
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet (1996) 1.06
KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs. Genomics (1999) 1.06
Expression of the c-ski proto-oncogene in human melanoma cell lines. Melanoma Res (1993) 1.05
Early neonatal brain injury in histologic chorioamnionitis. J Pediatr (2001) 1.05
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet (1995) 1.04
First cytogenetic study of a recurrent familial chordoma of the clivus. Int J Cancer (1999) 1.04