Published in Eur J Pediatr on December 01, 1995
Costello syndrome: clinical diagnosis in the first year of life. Eur J Pediatr (2007) 1.21
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype". Eur J Pediatr (2006) 1.11
Atrioventricular canal defect in patients with RASopathies. Eur J Hum Genet (2012) 0.77
Clinical manifestations of Noonan syndrome. Images Paediatr Cardiol (2001) 0.75
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet (2000) 3.87
Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. Am J Med Genet (1994) 2.68
Pachydermoperiostosis: an update. Clin Genet (2005) 2.65
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet (1994) 2.55
Opioid overdose in a patient using a fentanyl patch during treatment with a warming blanket. Anesth Analg (2001) 2.39
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr (1999) 2.18
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 2.06
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet (1999) 2.00
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet (1995) 1.82
Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet (1994) 1.73
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. Cell Death Differ (2010) 1.63
The phenotype of partial dup(7q) reconsidered: a report of five new cases. Clin Genet (1988) 1.54
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet (2003) 1.53
Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. Pediatr Cardiol (1997) 1.52
Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol (1999) 1.50
Heart transplantation on the first day of life from an anencephalic donor. Pediatr Transplant (1999) 1.50
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet (2005) 1.48
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet (1983) 1.47
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes Chromosomes Cancer (1996) 1.45
Jeune syndrome associated with cystinuria: report of two sisters. Am J Med Genet (1990) 1.43
Partial correction of chromosome instability in Fanconi anemia by desferrioxamine. Hum Genet (1989) 1.43
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet (2005) 1.43
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. Mol Med Today (2000) 1.41
Prenatal diagnosis of triose phosphate isomerase deficiency. Lancet (1989) 1.40
Noonan syndrome with cardiac left-sided obstructive lesions. Hum Genet (1997) 1.39
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet (2004) 1.36
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet (2004) 1.35
[Familial translocation 2-D]. Ann Genet (1968) 1.35
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J Med Genet (1999) 1.35
Comparative evaluation of six ELISAs for the detection of antibodies to the non-structural proteins of foot-and-mouth disease virus. Vaccine (2006) 1.35
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation (2000) 1.32
Familial deletions of chromosome 22q11. Am J Med Genet (1997) 1.29
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. J Invest Dermatol (2001) 1.28
A further step in the evolution of rabbit hemorrhagic disease virus: the appearance of the first consistent antigenic variant. Virus Res (1998) 1.25
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet (1999) 1.24
Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21. Am J Hum Genet (1999) 1.21
Prevalence and clinical picture of celiac disease in italian down syndrome patients: a multicenter study. J Pediatr Gastroenterol Nutr (2001) 1.19
Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet (2003) 1.18
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet (1997) 1.13
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Clin Genet (2010) 1.12
Interstitial deletion 13q syndromes: a report on two unrelated patients. Hum Genet (1979) 1.10
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification. J Med Genet (2007) 1.10
Congenital heart defects in Kabuki syndrome. Am J Med Genet (2001) 1.09
Meiotic drive at the myotonic dystrophy locus. J Med Genet (1994) 1.08
Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation (2001) 1.08
The epsilon-sarcoglycan gene in myoclonic syndromes. Neurology (2005) 1.08
Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. Am J Med Genet (1985) 1.08
Differentiation of foot-and-mouth disease virus infected animals from vaccinated animals using a blocking ELISA based on baculovirus expressed FMDV 3ABC antigen and a 3ABC monoclonal antibody. Arch Virol (2005) 1.08
RASopathies: Clinical Diagnosis in the First Year of Life. Mol Syndromol (2011) 1.07
Chromosomal microarray as first-tier approach in low-risk pregnancies: detection rate should not be the only criterion for its application. Ultrasound Obstet Gynecol (2014) 1.07
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology (2005) 1.07
Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Am J Med Genet (1999) 1.06
Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br J Audiol (1999) 1.06
Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. J Clin Invest (1994) 1.05
Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype. Cardiovasc Pathol (2001) 1.04
The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet (2003) 1.04
Expression of DeltaF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR. Gene Ther (2001) 1.03
Prenatal diagnosis of recurrence of cystic hygroma with normal chromosomes. Prenat Diagn (1985) 1.03
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet (2008) 1.03
Simple version of "megaprimer" PCR for site-directed mutagenesis. Biotechniques (1999) 1.02
Nonrandom association of atrioventricular canal and del (8p) syndrome. Am J Med Genet (1992) 1.02
Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome. Hum Genet (1976) 1.02
Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med (2001) 1.02
Organ localization and the effect of trauma on the fate of circulating cancer cells. Cancer Res (1965) 1.02