Citation Impact
Citing Papers
Oestrogen receptor (ER)-alpha and ER- isoforms in normal endometrial and endometriosis-derived stromal cells
1999
Partial characterization and three‐dimensional‐structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria
1998
Kidney stones: pathophysiology and medical management
2006 Standout
Hypothesis: A selective advantage for cystic fibrosis heterozygotes
1987
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in North African Jews with phenylketonuria
1993
Environmental and health effects of the herbicide glyphosate
2017 Standout
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
Endometriosis
2009 Standout
Genetics of hypercalciuria and calcium nephrolithiasis: From the rare monogenic to the common polygenic forms
2004
ESHRE guideline: management of women with endometriosis
2014 Standout
Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata
2001
Compartmentalization of neuronal and peripheral serotonin synthesis in Drosophila melanogaster
2007
Is docosahexaenoic acid, an n−3 long-chain polyunsaturated fatty acid, required for development of normal brain function? An overview of evidence from cognitive and behavioral tests in humans and animals
2005
PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems
1996
dCAPS, a simple technique for the genetic analysis of single nucleotide polymorphisms: experimental applications in Arabidopsis thaliana genetics
1998
Fish Intake, Contaminants, and Human Health
2006 Standout
Endometrial alterations in endometriosis: a systematic review of putative biomarkers
2011
Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria
2002
A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria
2001
How were new medicines discovered?
2011 Standout
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.
1994
Chapter 3 Neurogenetics of Courtship and Mating in Drosophila
2008 StandoutNobel
Homology requirements for unequal crossing over in humans.
1991 StandoutNobel
World distribution of factor V Leiden
1995 Standout
Why are some genetic diseases common?
1993
What makes a good case–control study?
2002 Standout
Effect of breast feeding on intelligence in children: prospective study, sibling pairs analysis, and meta-analysis
2006
Recurrent mutation in the human phenylalanine hydroxylase gene.
1990
Geometric and Electronic Structure/Function Correlations in Non-Heme Iron Enzymes
1999 Standout
Breastfeeding and the Use of Human Milk
2012 Standout
FLOWERING LOCUS C Encodes a Novel MADS Domain Protein That Acts as a Repressor of Flowering
1999 Standout
Pathogenesis and pathophysiology of endometriosis
2012 Standout
Optimal duration of exclusive breastfeeding
2012 Standout
A family study of coeliac disease.
1975
DNA Methylation and Apoptosis Resistance in Cancer Cells
2013
Gluten, major histocompatibility complex, and the small intestine
1992 Standout
Gluten, major histocompatibility complex, and the small intestine. A molecular and immunobiologic approach to the spectrum of gluten sensitivity ('celiac sprue').
1992 Standout
Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria
1999
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders
2000
Identification of the Cystic Fibrosis Gene: Genetic Analysis
1989 StandoutScience
Insect digestive enzymes: properties, compartmentalization and function
1994 Standout
Solid‐Phase Peptide Synthesis
1969 StandoutNobel
Studies on substrate specificities and subcellular location of multiple forms of peptide hydrolases in guinea-pig intestinal mucosa
1972
Relationship between gut cellobiase, lactase, aryl β-glucosidase, and aryl β-galactosidase activities of Locusta migratoria
1975
Amino acid metabolism of dog jejunum before and during absorption of keto analogues.
1977
Arginine metabolism: nitric oxide and beyond
1998 Standout
Symmetry-free cryo-EM structures of the chaperonin TRiC along its ATPase-driven conformational cycle
2011 StandoutNobel
Works of Jean Rey being referenced
Histochemical Localization of Intestinal Disaccharidases: Application to Peroral Biopsy Specimens
1967 Nature
Expression of oestrogen receptor-alpha splicing variants and oestrogen receptor-beta in endometrium of infertile patients
1998
Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus
1991
Breastfeeding and cognitive development
2003
The Mutant Genotype Is the Main Determinant of the Metabolic Phenotype in Phenylalanine Hydroxylase Deficiency
1999
A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype
1998
Hereditary Hypophosphatemic Rickets with Hypercalciuria: Report of a New Kindred
2001
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria
1994
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.
1991
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria
1991
Deletion and aberrant CpG island methylation of Caspase 8 gene in medulloblastoma
2004
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
1989
Influence of Flow Rate on the Kinetics of the Intestinal Absorption of Glucose and Lysine in Children
1974
Genetics of Disorders of Intestinal Digestion and Absorption
1970