1,043 results on '"De Paepe, Anne"'
Search Results
102. Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
103. Germline LEMD3 Mutations Are Rare in Sporadic Patients With Isolated Melorheostosis
104. RTPrimerDB: the real-time PCR primer and probe database, major update 2006
105. Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the α2-chain of type I collagen
106. A NEW RECURRENT INVERSION, INV(7) LEADS TO TRANSCRIPTIONAL ACTIVATION OF HOXA10 AND HOXA11 IN A SUBSET OF T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA: P.S.002
107. CYTOGENETIC CHARACTERIZATION OF TWO PLEUROPULMONARY BLASTOMA CASES: EVIDENCE FOR POLYSOMY 8, 17P LOSS AND DISTAL 10Q LOSS AS RECURRENT ABERRATIONS: P.A.068
108. Oral health in prevalent types of Ehlers–Danlos syndromes
109. A Novel Mutation in the Lysyl Hydroxylase 1 Gene Causes Decreased Lysyl Hydroxylase Activity in an Ehlers–Danlos VIA Patient
110. Unequivocal Delineation of Clinicogenetic Subgroups and Development of a New Model for Improved Outcome Prediction in Neuroblastoma
111. Expression analyses identifyMLLas a prominent target of 11q23 amplification and support an etiologic role forMLLgain of function in myeloid malignancies
112. Deletion of the Paired α5(IV) and α6(IV) Collagen Genes in Inherited Smooth Muscle Tumors
113. Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders
114. Gene-expression profiling reveals distinct expression patterns for Classic versus Variant Merkel cell phenotypes and new classifier genes to distinguish Merkel cell from small-cell lung carcinoma
115. RTPrimerDB: the Real-Time PCR primer and probe database
116. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
117. Genotype and Phenotype Analysis of 171 Patients Referred for Molecular Study of the Fibrillin-1 Gene FBN1 Because of Suspected Marfan Syndrome
118. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation
119. Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors
120. Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation
121. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
122. Arg-Cys Substitution at Codon 1246 of the Human Myosin Va Gene is not Associated with Griscelli Syndrome
123. Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
124. Dural ectasia and the diagnosis of Marfan's syndrome
125. Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
126. A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta
127. Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients
128. Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome
129. A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
130. Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome
131. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
132. Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
133. Arterial tortuosity syndrome: 40 new families and literature review
134. CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
135. Quantification of MYCN, DDX1, and NAG Gene Copy Number in Neuroblastoma Using a Real-Time Quantitative PCR Assay
136. Marfan syndrome
137. RNA pre-amplification enables large-scale RT-qPCR gene-expression studies on limiting sample amounts
138. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
139. CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23
140. methBLAST and methPrimerDB: web-tools for PCR based methylation analysis
141. Deletion of the Paired alpha 5(IV) and alpha 6(IV) Collagen Genes in Inherited Smooth Muscle Tumors
142. arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays
143. No evidence for involvement of SDHD in neuroblastoma pathogenesis
144. Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons
145. Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
146. Complex splicing pattern generates great diversity in human NF1 transcripts
147. VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
148. Correction: Arterial tortuosity syndrome: 40 new families and literature review
149. Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
150. Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.