Published in Am J Hum Genet on February 01, 1996
Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel. EMBO J (1997) 1.43
Hyperekplexia in neonates. Postgrad Med J (2001) 1.26
The impact of human hyperekplexia mutations on glycine receptor structure and function. Mol Brain (2014) 1.02
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. J Med Genet (1996) 0.98
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. Am J Hum Genet (1996) 0.95
Glycine receptor mouse mutants: model systems for human hyperekplexia. Br J Pharmacol (2013) 0.86
Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation? Front Mol Neurosci (2012) 0.82
Corticospinal transmission to leg motoneurones in human subjects with deficient glycinergic inhibition. J Physiol (2002) 0.80
The strychnine-binding subunit of the glycine receptor shows homology with nicotinic acetylcholine receptors. Nature (1987) 4.15
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet (1993) 2.35
Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers. EMBO J (1993) 2.11
Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J (1990) 1.98
Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. EMBO J (1994) 1.71
Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat Genet (1994) 1.64
Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor. J Biol Chem (1994) 1.51
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nat Genet (1994) 1.41
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor. Hum Mol Genet (1994) 1.24
A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death. Hum Mol Genet (1994) 1.17
An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene. Hum Mol Genet (1994) 1.07
Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. Am J Hum Genet (1992) 0.93
C-kit mutations in core binding factor leukemias. Blood (2000) 1.93
Evidence of thalamic gray matter loss in pediatric multiple sclerosis. Neurology (2008) 1.63
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet (1996) 1.53
Development of a standard set of microsatellite reference alleles for identification of grape cultivars. Theor Appl Genet (2004) 1.52
Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines. Oncogene (2006) 1.37
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
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
Opioids for neonates receiving mechanical ventilation: a systematic review and meta-analysis. Arch Dis Child Fetal Neonatal Ed (2009) 1.17
A tumor suppressor locus in familial and sporadic chordoma maps to 1p36. Int J Cancer (2000) 1.15
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
Expression of the c-ski proto-oncogene in human melanoma cell lines. Melanoma Res (1993) 1.05
Prospective study of multiple sclerosis with early onset. Mult Scler (2002) 1.05
Opioids for neonates receiving mechanical ventilation. Cochrane Database Syst Rev (2008) 1.04
First cytogenetic study of a recurrent familial chordoma of the clivus. Int J Cancer (1999) 1.04
Relationships between genes on human chromosome 11 encoding cell-surface antigens. Somat Cell Mol Genet (1984) 1.02
A family with three sibs carrying trisomy 21. Ann Genet (1975) 1.02
Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics (1997) 1.01
Determination of oxidative status in breast and formula milk. Acta Paediatr (2004) 1.00
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family. Am J Med Genet (2000) 0.99
Distinct expression pattern of microtubule-associated protein/microtubule affinity-regulating kinase 4 in differentiated neurons. Neuroscience (2006) 0.99
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics (2009) 0.99
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome. J Med Genet (2011) 0.98
Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation. Am J Med Genet (2002) 0.98
Somatic cell fusion as a source of genetic rearrangement leading to metastatic variants. Cancer Metastasis Rev (1984) 0.97
c-kit activating mutations and mast cell proliferation in human leukemia. Blood (1998) 0.97
Selection of Apis mellifera workers by the parasitic mite Varroa destructor using host cuticular hydrocarbons. Parasitology (2010) 0.97
FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour. J Med Genet (2004) 0.96
Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region. J Med Genet (2006) 0.96
Suggestive evidence that the highly metastatic variant ESb of the T-cell lymphoma Eb is derived from spontaneous fusion with a host macrophage. Int J Cancer (1984) 0.95
Acquisition of high metastatic capacity after in vitro fusion of a nonmetastatic tumor line with a bone marrow-derived macrophage. J Exp Med (1984) 0.94
Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs. Prenat Diagn (2006) 0.92
In vivo differentiation of mast cells from acute myeloid leukemia blasts carrying a novel activating ligand-independent C-kit mutation. Blood Cells Mol Dis (1998) 0.91
Cortical lesions in children with multiple sclerosis. Neurology (2011) 0.91
A comparative analysis of collagen III, IV, laminin and fibronectin in Duchenne muscular dystrophy biopsies and cell cultures. Eur J Cell Biol (1986) 0.91
Griseofulvin: a potential agent of chromosomal segregation in cultured cells. Mutat Res (1974) 0.90
Treatment of early-onset multiple sclerosis with intramuscular interferonbeta-1a: long-term results. Neurol Sci (2007) 0.90
Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis. Clin Genet (2007) 0.88
Disease-modifying drugs in childhood-juvenile multiple sclerosis: results of an Italian co-operative study. Mult Scler (2005) 0.88
19p deletion in recurring leiomyosarcoma lesions from the same patient. Cancer Genet Cytogenet (2000) 0.87
Griseofulvin. Mutat Res (1988) 0.86
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet A (2010) 0.85
Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome. Am J Med Genet (1997) 0.85
C-Kit point mutations in core binding factor leukemias: correlation with white blood cell count and the white blood cell index. Leukemia (2003) 0.84
Beneficial effect of fluoxetine in a case of sporadic hyperekplexia. Clin Neuropharmacol (2000) 0.84
FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure. Clin Genet (1996) 0.84
Intelligence outcome in children with shunted hydrocephalus of different etiology. Childs Nerv Syst (1994) 0.84
Cytogenetic study of pituitary adenomas. Cancer Genet Cytogenet (1997) 0.83
Breastfeeding and neonatal intensive care unit policies. Int J Epidemiol (1997) 0.83
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome. Hum Genet (1996) 0.83
Malformation syndrome with t(2;22) in a cancer family with chromosome instability. Cancer Genet Cytogenet (1989) 0.83
Germline mosaicism in Rett syndrome identified by prenatal diagnosis. Clin Genet (2005) 0.82
Ticks and Lyme borreliosis in an alpine area in northeast Italy. Med Vet Entomol (2010) 0.81
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Clin Genet (2010) 0.81
An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation. Clin Genet (1998) 0.81
FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts. Am J Med Genet (2001) 0.80
Activation of cyclophosphamide by freeze-dried microsomes as an in vitro test of cytogenetic damage. Mutat Res (1982) 0.80
Trisomy 4 leading to duplication of a mutated KIT allele in acute myeloid leukemia with mast cell involvement. Cancer Genet Cytogenet (2000) 0.80
Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child. Eur J Hum Genet (2001) 0.80
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome. J Med Genet (2007) 0.79
Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome. Hum Mutat (2000) 0.79
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes. Clin Genet (2008) 0.79
Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma. Acta Genet Med Gemellol (Roma) (1996) 0.79
FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes. Am J Med Genet (1999) 0.79
Opioids for neonates receiving mechanical ventilation. Cochrane Database Syst Rev (2005) 0.79
FISH analysis in Prader-Willi and Angelman syndrome patients. Am J Med Genet (1995) 0.79
Fibronectin, laminin in hybrids of Rous sarcoma virus transformed and normal mouse fibroblasts. Tumori (1985) 0.78
Metastatic clones selected from an RSV-induced mouse sarcoma share a common marker chromosome. Int J Cancer (1983) 0.78
In situ hybridization analysis of interstitial C-heterochromatin in marker chromosomes of two human melanomas. Cancer Res (1989) 0.78
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression. Clin Dysmorphol (2000) 0.78
AML with t(8;21) and trisomy 4: possible involvement of c-kit? Leukemia (2003) 0.78
Expression pattern of c-sis, c-fos and c-jun in human placenta and embryofetal organs. Gynecol Obstet Invest (1996) 0.78
Mapping of human WHN gene in a 17q11.2 YAC contig and identification of an intragenic STR. Mol Cell Probes (1999) 0.78
Cytogenetic instability in a family with gastric cancer recurrence. Cancer Genet Cytogenet (1987) 0.78
Visiting policies in neonatal intensive care units: staff and parents' views. Arch Dis Child Fetal Neonatal Ed (2000) 0.78
FISH with locus-specific probes on stretched chromosomes: a useful tool for genome organization studies. Chromosome Res (2001) 0.77
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. Ann Hum Genet (2005) 0.77
A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences. Chromosome Res (1998) 0.77
Localization of fos, jun, kit and SCF mRNA in human placenta throughout gestation using in situ RT-PCR. Early Pregnancy (1997) 0.77
Effects of neurohormonal antagonism on symptoms and quality-of-life in heart failure. Eur Heart J (1998) 0.77
Impairment of neuropsychological functions in children with medulloblastomas and astrocytomas in the posterior fossa. Childs Nerv Syst (1989) 0.77
Non-random trisomies of chromosomes 5, 8 and 12 in the prolactinoma sub-type of pituitary adenomas: conventional cytogenetics and interphase FISH study. Int J Cancer (2000) 0.77
Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families. Am J Med Genet (1998) 0.76
Karyotypic characterization of a new human embryonal rhabdomyosarcoma cell line. Cancer Genet Cytogenet (1991) 0.76
Combined treatment modality for medulloblastoma in childhood: effects on neuropsychological functioning. Neuropediatrics (1991) 0.76
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients. Am J Med Genet (1997) 0.76
Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome. Am J Med Genet (2001) 0.76
Inheritance of immunogenicity and metastatic potential in murine cell hybrids from the T-lymphoma ESb08 and normal spleen lymphocytes. J Natl Cancer Inst (1984) 0.75
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers. Hum Genet (2001) 0.75
Expression of thymidine kinase activity in hybrids between human leukemic cells and a TK-mouse cell line. Biochem Exp Biol (1979) 0.75
Does 9-azaguanine induce or select for chromosome number instability in human cell hybrids? Cell Biol Int Rep (1982) 0.75
Expression of transformation markers and suppression of tumorigenicity in human cell hybrids. Eur J Cancer Clin Oncol (1982) 0.75
[Mortality triplicates in acute myocardial infarction patients affected by chronic renal failure]. G Ital Nefrol (2009) 0.75
No reflow in patients undergoing primary angioplasty for acute myocardial infarction at high risk: incidence and predictive factors. Minerva Cardioangiol (2005) 0.75
Continuous usage of low doses of human leukocyte interferon with contact lenses in herpetic keratoconjunctivitis. Ophthalmic Res (1985) 0.75