Andre Reis
0000-0002-6301-6363
280 papers found
Refreshing results…
Functional Characterization of a Novel CFTR Mutation P67S Identified in a Patient with Atypical Cystic Fibrosis
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome
TNF polymorphisms in psoriasis: Association of psoriatic arthritis with the promoter polymorphismTNF*-857 independent of thePSORS1 risk allele
Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia
Genetic Basis and Pancreatic Biology of Johanson-Blizzard Syndrome
Male Restricted Genetic Association of Variant R620W in PTPN22 with Psoriatic Arthritis
Primary congenital glaucoma and Rieger's anomaly: Extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
Lack of genetic association of the interleukin-4 receptor single-nucleotide polymorphisms I50V and Q551R with erosive disease in psoriatic arthritis
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) (vol 37, pg 1345, 2005)
Genotype–epigenotype–phenotype correlations in females with frontometaphyseal dysplasia
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
Systematic Linkage Disequilibrium Analysis of SLC12A8 at PSORS5 Confirms a Role in Susceptibility to Psoriasis Vulgaris
Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator
Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia:
Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)
Novel autosomal recessive progressive hyperpigmentation syndrome
Lack of Evidence for Genetic Association to RUNX1 Binding Site at PSORS2 in Different German Psoriasis Cohorts
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