Claudine Junien

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Claudine Junien

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#13112

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#8035

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philosophy Degrees

Claudine Junien

Biology

#13118

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#16645

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Genetics

#1452

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#1554

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Molecular Biology

#2177

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#2211

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Biochemistry

#2268

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#2415

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Philosophy
Biology

Claudine Junien's Degrees

PhD Biochemistry Université Paris Cité
Doctorate Medicine Université Paris Cité

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Claudine Junien's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia (2003) (2613)
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome (1991) (914)
Child health, developmental plasticity, and epigenetic programming. (2011) (571)
Heterozygous TGFBR2 mutations in Marfan syndrome (2004) (518)
Uniparental paternal disomy in a genetic cancer-predisposing syndrome (1991) (419)
Clinical features of 52 neonates with hyperinsulinism. (1999) (297)
Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database (2003) (288)
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. (1997) (280)
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. (1998) (274)
Nutritional epigenomics of metabolic syndrome: new perspective against the epidemic. (2005) (274)
Placental contribution to the origins of sexual dimorphism in health and diseases: sex chromosomes and epigenetics (2013) (272)
Sexual dimorphism in environmental epigenetic programming (2009) (266)
Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. (1993) (253)
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease (2009) (247)
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. (1998) (237)
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. (2001) (231)
C57BL/6J and A/J Mice Fed a High‐Fat Diet Delineate Components of Metabolic Syndrome (2007) (227)
UMD (Universal Mutation Database): A generic software to build and analyze locus‐specific databases (2000) (216)
Sex- and Diet-Specific Changes of Imprinted Gene Expression and DNA Methylation in Mouse Placenta under a High-Fat Diet (2010) (214)
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1) (2000) (204)
CTG repeat instability and size variation timing in DNA repair‐deficient mice (2003) (203)
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia (2005) (192)
Placental contribution to nutritional programming of health and diseases: epigenetics and sexual dimorphism (2015) (188)
Maternal Diets Trigger Sex-Specific Divergent Trajectories of Gene Expression and Epigenetic Systems in Mouse Placenta (2012) (187)
Report of the committee on chromosome and gene loss in human neoplasia (1991) (174)
The case for strategic international alliances to harness nutritional genomics for public and personal health† (2005) (170)
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. (1999) (169)
A second locus for Marfan syndrome maps to chromosome 3p24.2–p25 (1994) (167)
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. (2000) (164)
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome (2003) (154)
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases (2001) (150)
Developmental programming and epigenetics. (2011) (144)
Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma. (1989) (143)
Genetics of neonatal hyperinsulinism (2000) (143)
Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice (2006) (139)
Software and database for the analysis of mutations in the VHL gene (1998) (138)
Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC (1999) (138)
Somatic Mosaicism for Partial Paternal Isodisomy in Wiedemann-Beckwith Syndrome: A Post-Fertilization Event (1993) (136)
Life-Long Implications of Developmental Exposure to Environmental Stressors: New Perspectives. (2015) (135)
Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice (1997) (131)
Metabolic imprinting, programming and epigenetics – a review of present priorities and future opportunities (2010) (130)
Candidate genetic modifiers of individual susceptibility to renal cell carcinoma: a study of polymorphic human xenobiotic-metabolizing enzymes. (1999) (128)
Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation (1975) (124)
Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. (1999) (122)
Defective satellite cells in congenital myotonic dystrophy. (2001) (118)
Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France (2010) (116)
The UMD‐LDLR database: additions to the software and 490 new entries to the database (2002) (114)
Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia (1994) (114)
Sex in basic research: concepts in the cardiovascular field. (2017) (108)
Human type I procollagen genes are located on different chromosomes. (1982) (108)
Report of the committee on the genetic constitution of chromosome 11. (1988) (106)
MSH2-Dependent Germinal CTG Repeat Expansions Are Produced Continuously in Spermatogonia from DM1 Transgenic Mice (2004) (106)
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. (2001) (106)
CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice (2007) (104)
The Genetics of Neonatal Hyperinsulinism (2003) (103)
Marfan Database (third edition): new mutations and new routines for the software (1998) (98)
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders (2008) (94)
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis (1998) (93)
Genotype–phenotype correlation in von Hippel‐Lindau families with renal lesions (2004) (93)
Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods. (2007) (92)
Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. (1998) (91)
Role for the Wilms tumor gene in genital development? (1990) (91)
Report on the IASO Stock Conference 2006: early and lifelong environmental epigenomic programming of metabolic syndrome, obesity and type II diabetes (2007) (90)
The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene (2009) (86)
Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. (1993) (83)
Homozygous deletion of a DNA marker from chromosome 11p13 in sporadic Wilms tumor. (1988) (82)
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. (2003) (79)
Nutri-epigenomics: lifelong remodelling of our epigenomes by nutritional and metabolic factors and beyond (2007) (79)
Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females. (1992) (73)
Depot- and sex-specific effects of maternal obesity in offspring's adipose tissue. (2016) (72)
Placental BDNF/TrkB signaling system is modulated by fetal growth disturbances in rat and human. (2010) (71)
Implication of the folate-methionine metabolism pathways in susceptibility to follicular lymphomas. (2006) (70)
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature (1984) (69)
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. (1992) (68)
Early nutrition and epigenetic programming: chasing shadows (2010) (68)
Expression of epigenetic machinery genes is sensitive to maternal obesity and weight loss in relation to fetal growth in mice (2016) (67)
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. (1980) (66)
Dietary Alleviation of Maternal Obesity and Diabetes: Increased Resistance to Diet-Induced Obesity Transcriptional and Epigenetic Signatures (2013) (64)
Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients. (1985) (62)
Beckwith-Wiedemann syndrome, tumourigenesis and imprinting. (1992) (62)
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. (1982) (61)
Epigenetic mechanisms involved in developmental nutritional programming. (2011) (61)
Maternal environment and the reproductive function of the offspring. (2012) (60)
Software and database for the analysis of mutations in the human FBN1 gene (1996) (59)
Nutritional developmental epigenomics: immediate and long-lasting effects (2010) (59)
Impact of diets and nutrients/drugs on early epigenetic programming (2006) (58)
Maternal calorie restriction modulates placental mitochondrial biogenesis and bioenergetic efficiency: putative involvement in fetoplacental growth defects in rats. (2013) (58)
Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension. (2006) (57)
A deletion map of the WAGR region on chromosome 11. (1989) (56)
Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci. (1988) (55)
Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigenesis (1995) (55)
c-Ha-ras1 is not deleted in aniridia–Wilms' tumour association (1983) (55)
Software and database for the analysis of mutations in the human LDL receptor gene (1997) (54)
Congenital hyperinsulinism and mosaic abnormalities of the ploidy (2005) (54)
The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2. (1984) (53)
Isolation and Characterization of the Human Fibrillar Collagen Genes a (1985) (53)
Epigenetic control of development and expression of quantitative traits. (2011) (51)
ABCC8 (SUR1) and KCNJ11 (KIR6.2) Mutations in Persistent Hyperinsulinemic Hypoglycemia of Infancy and Evaluation of Different Therapeutic Measures (2002) (44)
DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice. (2007) (42)
Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy (1993) (42)
Lifelong Circadian and Epigenetic Drifts in Metabolic Syndrome (2007) (40)
Sexual Dimorphism in Non-Mendelian Inheritance (2008) (40)
Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma (1989) (39)
Beckwith-Wiedemann syndrome, tumourigenesis and imprinting (1992) (37)
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1 (2010) (37)
Beckwith-Wiedemann Syndrome, Tumorigenesis and Imprinting (1992) (36)
Silencing of CDKN 1 C ( p 57 KIP 2 ) is associated with hypomethylation at KvDMR 1 in Beckwith – Wiedemann syndrome (2003) (35)
Familial ligand‐defective apolipoprotein B‐100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population (1997) (35)
Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13. (1989) (34)
Frequent overexpression of cyclin D2/cyclin-dependent kinase 4 in Wilms' tumor. (2005) (34)
Changes in WT1 splicing are associated with a specific gene expression profile in Wilms' tumour (2002) (34)
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene (1997) (33)
WT1 splicing alterations in Wilms' tumors. (2000) (33)
Software and database for the analysis of mutations in the human WT1 gene (1998) (33)
The structural gene for aldolase B (ALDB) maps to 9q13→32 (1985) (32)
Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1. (1982) (32)
The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22 (1987) (32)
Facial appearance in persistent hyperinsulinemic hypoglycemia. (2002) (31)
Intriguing association between disease associated unstable trinucleotide repeat and CpG island. (1997) (31)
Isolation of kidney complementary DNAs down-expressed in Wilms' tumor by a subtractive hybridization approach. (1993) (30)
Maternal obesity programs increased leptin gene expression in rat male offspring via epigenetic modifications in a depot-specific manner (2017) (30)
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. (1999) (30)
R3531C Mutation in the Apolipoprotein B Gene Is Not Sufficient to Cause Hypercholesterolemia (2000) (29)
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method (1992) (28)
The structural gene for transferrin (TF) maps to 3q21----3qter. (1984) (28)
Correlation Between Decreased Myocardial Glucose Phosphorylation and the DNA Mutation Size in Myotonic Dystrophy (1994) (28)
Further evidence for the dispersion of the human fibrillar collagen genes. (1986) (28)
Blunted coronary reserve in myotonic dystrophy. An early and gene-related phenomenon. (1996) (28)
Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma. (2001) (26)
Assignment of 112 microsatellite markers to 23 chromosome 11 subregions delineated by somatic hybrids: comparison with the genetic map. (1994) (26)
Genetics of congenital hyperinsulinism (2004) (26)
Impaired cerebral glucose metabolism in myotonic dystrophy: a triplet-size dependent phenomenon (1998) (26)
A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study. (1992) (25)
CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia. (1989) (25)
Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor. (1990) (24)
The distal region of 11p13 and associated genetic diseases. (1991) (24)
[Nutritional epigenomics of metabolic syndrome]. (2005) (24)
Mapping of a human fibrillar collagen gene, pro α1(XI) (COL11A1), to the p21 region of chromosome 1 (1988) (23)
Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes (2002) (23)
Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT1 and PGAMA to subbands 10q26.1 (or q25.3). (1982) (23)
Loss of Imprinted Genes and Paternal SUR1 Mutations Lead to Focal Form of Congenital Hyperinsulinism (2000) (22)
Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families. (1991) (22)
Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D (2004) (22)
Abstracts for the committee on the genetic constitution of chromosome 1 (1991) (21)
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects (2000) (20)
HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases. (2000) (20)
Genomics and medicine: an anticipation. From Boolean Mendelian genetics to multifactorial molecular medicine. (2000) (20)
Abstracts of workshop presentations (Part 2 of 16) (1987) (20)
Retinoblastoma, deletion 13q14, and esterase D: application of gene dosage effect to prenatal diagnosis. (1982) (20)
[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)]. (1975) (19)
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. (1990) (19)
Physical and genetic mapping of the dipeptidase gene DPEP1 to 16q24.3. (1993) (19)
Abstracts of workshop presentations (Part 6 of 16) (1987) (19)
[Nutritional epigenomics of metabolic syndrome]. (2005) (18)
Genetics of Wilms' tumor: a blend of aberrant development and genomic imprinting. (1994) (18)
Profiling of differential gene expression in Wilms tumor by cDNA expression array (2001) (17)
cDNA cloning, tissue distribution and chromosomal localization of the human ID4 gene. (1998) (17)
Report of the second chromosome 11 workshop. (1992) (17)
Genetic linkage heterogeneity in myotubular myopathy. (1995) (17)
Direct gene dosage determination in patients with unbalanced chromosomal aberrations using cloned DNA sequences. Application to the regional assignment of the gene for alpha 2(I) procollagen (COLIA2). (1983) (17)
Myotonic dystrophy: Over-expression or/and under-expression? A critical review on a controversial point (1993) (16)
[Nutritionnal epigenomics: consequences of unbalanced diets on epigenetics processes of programming during lifespan and between generations]. (2005) (16)
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19 (2004) (16)
Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family (1993) (15)
The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific (2004) (15)
Partial deletion of the short arm of chromosome 12(p11; p13). Report of a case. (1975) (15)
The beta chorionic gonadotropin-beta luteinizing gene cluster maps to human chromosome 19 (2004) (15)
Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11. (1993) (15)
Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome. (1988) (15)
Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia. (1998) (15)
Two TaqI dimorphk sites at the human β-hydroxylase locus (1989) (14)
Del11p13/nephroblastoma without aniridia (2004) (14)
Assignment of NADH-cytochrome b5 reductase (DIA1 locus) to human chromosome 22 (1978) (14)
Meta‐analysis of genome‐wide DNA methylation and integrative omics of age in human skeletal muscle (2021) (14)
Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6 (2000) (14)
Silencing of CDKN1C ( p57 KIP2 ) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome (2003) (14)
Seven megabase yeast artificial chromosome contig at region 11p15: identification of a yeast artificial chromosome spanning the breakpoint of a chromosomal translocation found in a case of Beckwith-Wiedemann syndrome. (1995) (13)
Duplication 15q22»15qter and its phenotypic expression (2004) (13)
Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method (2004) (13)
Fibulin-2: Genetic Mapping and Exclusion as a Candidate Gene in Marfan Syndrome Type 2 (1996) (13)
Catalase determination in various etiologic forms of Wilms' tumor and gonadoblastoma. (1983) (13)
Gene for apolipoprotein CII is on human chromosome 19 (1984) (12)
Effect of Maternal Obesity and Preconceptional Weight Loss on Male and Female Offspring Metabolism and Olfactory Performance in Mice (2019) (12)
Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion. (1989) (12)
Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient (1988) (11)
[Prenatal diagnosis of generalized cytochrome b5 reductase deficiency (congenital methemoglobinemia with mental retardation, type II) (author's transl)]. (1981) (10)
Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers. (1991) (10)
Abstracts of workshop presentations (Part 12 of 16) (1987) (10)
Subregional physical mapping of an αB-crystallin sequence and of a new expressed sequence D11S877E to human 11q (2004) (10)
Direct haplotyping by double digestion of PCR-amplified creatine kinase (CKMM): application to myotonic dystrophy diagnosis. (1990) (9)
Prenatal diagnosis of congenital enzymopenic methaemoglobinaemia with mental retardation due to generalized cytochrome b5 reductase deficiency: First report of two cases (1981) (9)
[Epigenetics, interface between environment and genes: role in complex diseases]. (2012) (9)
Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13 (1989) (9)
G6PD Baudelocque: a new unstable variant characterized in cultured fibroblasts. (1974) (9)
Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p (1978) (9)
Multiple acral fibromas in a patient with familial retinoblastoma: a cutaneous marker of tumour‐suppressor gene germline mutation? (2000) (9)
Foetal enzyme pattern of two alveolar rhabdomyosarcomas. (1972) (9)
Cadherins in Wilms' tumor: E-cadherin expression despite absence of WT1. (2003) (9)
[A new case of partial monosomy of chromosome 12,del(12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B]. (1985) (9)
Abstracts for the committee on comparative gene mapping (1991) (9)
[The new paradigm of the developmental origin of health and diseases (DOHaD)--Epigenetics and environment: evidence and missing links]. (2016) (9)
The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase) (2004) (8)
Regional assignment of red cell acid phosphatase locus to band 2p25 (1979) (8)
12pter → 12p 12.2: Possible assignment of human triose phosphate isomerase (1977) (8)
Abstracts of workshop presentations (Part 15 of 16) (1987) (8)
Report of the committee on the genetic constitution of chromosomes 10, 11, and 12. (1987) (8)
[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12]. (1976) (8)
[Epigenetics and Nutrition: maternal nutrition impacts on placental development and health of offspring]. (2015) (7)
The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene —a useful marker for human chromosome 2 (1986) (7)
A highly polymorphic probe on 11p15.5: L22.5.2 (D11S774). (1991) (7)
An oligonucleotide microarray for mouse imprinted genes profiling (2006) (7)
[Trisomy 12p caused by malsegregation of a paternal translocation t(12;22) (p11;p11)]. (1978) (7)
Abstracts of workshop presentations (Part 10 of 16) (1987) (7)
Identification of the haplotype associated with the APOB‐3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation (1993) (7)
Glucose-6-phosphate dehydrogenase and hemoglobin variants in Kel Kummer Tuareg and related groups. Indirect evidence for alpha-thalassemia trait. (1982) (6)
Third Santorini conference pharmacogenomics workshop report: “Pharmacogenomics at the crossroads: what else than good science will be needed for the field to become part of Personalized Medicine?” (2007) (6)
Placental expression of the obesity-associated gene FTO is reduced by fetal growth restriction but not by macrosomia in rats and humans (2012) (6)
Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34→7q22 (1987) (6)
Confirmation of the regional assignment of peptidase A (PEPA) to 18q23 by gene dosage studies. (1980) (6)
Two TaqI dimorphic sites at the human beta-hydroxylase locus. (1989) (6)
Heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Algeria (1978) (6)
SUBREGIONAL MAPPING OF BWS, CTSD, MYOD1, AND A T-ALL BREAKPOINT IN 11P15 (1989) (6)
Genetic exclusion of apo-B gene in recessive abetalipoproteinemia. (1993) (6)
DNA analysis as clinical investigation: when and how? (1984) (6)
Testing Genomic Imprinting in Wilms’ Tumor (1993) (5)
Recurrent mutation at aa 792 in the LDL receptor gene in a French patient (1991) (5)
[Colon cancer and nutritional genetics: modifier genes]. (2001) (5)
Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination (2004) (5)
Abstracts for the committee on the genetic constitution of chromosome 17 (1991) (5)
Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
Reply to “The question of heterogeneity in Marfan syndrome” (1995) (5)
Gene dosage effect in human triploid fibroblasts (1976) (5)
[Epigenetics in transgenerational responses to environmental impacts: from facts and gaps]. (2016) (5)
Abstracts of workshop presentations pp. 948-967 (1989) (5)
NcoI RFLP at 19q13 identified by the DNA sequence pW119B (D19S169). (1991) (5)
Abstracts for the committee on the genetic constitution of the X chromosome (Part 3 of 3) (1991) (5)
Glucose-6-Phosphate Dehydrogenase and Hemoglobin Variants in Kel Kummer Tuareg and Related Groups (1982) (5)
The gene for catalase is assigned between the antigen loci MIC4 and MIC11. (1989) (5)
Congenital Enzymopenic Methaemoglobinaemia (1976) (5)
Report of the committee on the genetic constitution of chromosome 11. (1990) (5)
Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene (1993) (4)
Cancer nutrigenomics. (2004) (4)
[46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)]. (1979) (4)
Mitotic deletions of 11p15.5 in two different tumors indicate that the CALCA locus is distal to the PTH locus. (1989) (4)
[Increase of LDH A and partial trisomy 11p (author's transl)]. (1980) (4)
Meta-analysis of genome-wide DNA methylation and integrative OMICs in human skeletal muscle (2020) (4)
Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
[Pure trisomy 13q13-qter caused by aneusomic recombination of a maternal pericentric inversion]. (1983) (4)
Abstracts of workshop presentations (Part 3 of 16) (1987) (4)
Analysis of CTG repeats using DM1 model mice. (2004) (4)
Analysis of the 525 point mutations in the human LDL receptor gene database (1999) (4)
[Sexual dimorphism in the XXI(st) century]. (2012) (4)
Abstracts of workshop presentations (Part 1 of 16) (1987) (4)
Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
AFM/MDA 1st International Myotonic Dystrophy Consortium Conference 30 June–1 July 1997, Paris, France (1998) (4)
Hyperinsulinemic hypoglycemia in children. (2004) (4)
REFINED BREAKPOINT MAP OF WAGR AND RELATED PATIENTS WITH CHROMOSOME-11P13 MARKERS (1989) (4)
Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD) (1992) (4)
Abstracts for the committee on the genetic constitution of chromosome 2 (1991) (4)
Abstracts of workshop presentations (Part 7 of 16) (1987) (4)
[Primary hyperparathyroidism. Mechanisms of hypercalcemia]. (1991) (4)
Abstracts for the committee on the genetic constitution of chromosome 6 (1991) (4)
Abstracts for the committee on the genetic constitution of chromosome 15 (1991) (3)
Identification of 23 TGFBR 2 and 6 TGFBR 1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II , Loeys-Dietz syndrome and related disorders (2019) (3)
WT 1 Splicing Alterations in Wilms ’ Tumors 1 (2000) (3)
[DOhaD and epigenetic information: societal challenges]. (2016) (3)
Abstracts of workshop presentations (Part 8 of 16) (1987) (3)
CANDIDATE GENE APPROACH TO TYPE IIa HYPERCHOLESTEROLAEMIA (1989) (3)
The gene for human fibroblast interferon (IFB) maps to 9p21 (2004) (3)
The proα2 (V) collagen gene (COL5A2) maps to 2q14→2q32, syntenic to the proα1 (III) collagen locus (COL3A1) (1986) (3)
Abstracts of workshop presentations (Part 4 of 16) (1987) (3)
Developmental programming and epigenetics 1 – 4 (2011) (3)
A simple and fast method for cell recovery and DNA content analysis from various mouse tissues by flow cytometry (2007) (3)
Regional assignment of arylsulfatase A, mitochondrial aconitase and NADH-cytochrome b5 reductase by somatic cell hybridization (2004) (3)
Abstracts for the committee on the genetic constitution of chromosome 12 (1991) (3)
Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
Single base pair germ-line deletion in the p53 gene in a cancer predisposed family (1994) (3)
2 Implications for Obesity and Common Diseases (2007) (3)
Abstracts for the committee on chromosomal changes in neoplasia (1991) (3)
Abstracts of workshop presentations (Part 11 of 16) (1987) (2)
Abstracts for the committee on the genetic constitution of chromosome 16 (1991) (2)
Abstracts of workshop presentations (Part 5 of 16) (1987) (2)
Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
Wiedman-Beckwith syndrome, tumorigenesis and imprinting. (1996) (2)
Detection of carriers for duchenne muscular dystrophy. Quality control of creatine kinase assay (1982) (2)
Male and Female Placentas Have Divergent Transcriptomic and Epigenomic Responses to Maternal Diets: Not Just Hormones (2014) (2)
Abstracts of workshop presentations (Part 14 of 16) (1987) (2)
Abstracts for the committee on the genetic constitution of chromosome 22 (1991) (2)
Abstracts for the committee on the genetic constitution of chromosome 11 (1991) (2)
The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1). (1986) (2)
Wilms' tumor: tumor suppressor genes and imprinting. (1993) (2)
Delineation of a 2.8 megabases region harboring a potential tumor suppressor gene involved in renal cell carcinoma, that is commonly deleted from chromosome 14. (2003) (2)
[Myotonic dystrophy of Steinert]. (1989) (2)
[BDNF in feto-placental development]. (2011) (2)
Report of the committee on the genetic constitution of chromosome 11. (1989) (2)
The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome (1990) (2)
[Biochemical study of a case of erythroleukemia. Demonstration in an abnormal erythrocyte population of simultaneous anomalies of hemoglobin and glycolysis enzymes]. (1972) (1)
Placental contribution to the origins of sexual dimorphism in health and diseases: sex chromosomes and epigenetics (2013) (1)
Abstracts for the committee on the genetic constitution of the Y chromosome (1991) (1)
Congenital enzymopenic methaemoglobinaemia. Clinical and biochemical study of a family with three homozygotes. (1976) (1)
Obesity and type 2 diabetes: the epigenetic inheritance hypothesis (2002) (1)
Abstracts of workshop presentations (Part 16 of 16) (1987) (1)
[Persistent hyperinsulinemic hypoglycemia in the newborn and infants]. (1998) (1)
Abstracts for the committee on the genetic constitution of chromosome 7 (2004) (1)
Sexual Dimorphism and DOHaD through the Lens of Epigenetics: Genetic, Ancestral, Developmental, and Environmental Origins from Previous to the Next Generation(s) (2016) (1)
Triplex gene dosage effect of TPI and G3PD in a human lymphoblastoid cell line with partial trisomy 12p13 and 18p (1979) (1)
Abstracts for the committee on the genetic constitution of chromosome 9 (1991) (1)
[Molecular diagnosis of Duchenne and Becker muscular dystrophies. Current data]. (1987) (1)
PK3: A new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance (2004) (1)
Conservation of the human COL1A1-TK-GAA synteny and homoeologous assignment in the African green monkey and the baboon (Cercopithecoidae) (2004) (1)
[Prevention of renal carcinoma: the nutri-genetic approach]. (2000) (1)
Contents Vol. 55, 1990 (1990) (1)
The Epigenetic Inheritance Hypothesis (2002) (1)
[Generalized saturnine paralysis. Discovery of a double congenital disease: glucose-6-phosphate dehydrogenase deficiency (new variant) and distal tubular acidosis]. (1977) (1)
Molecular genetics of renal tumors. (1992) (1)
Abstracts for the committee on the genetic constitution of chromosome 10 (1991) (1)
Abstracts for the committee on the genetic constitution of chromosome 13 (1991) (1)
[Early determinants of health and disease: epigenetics and environment]. (2011) (1)
Abstracts for the committee on the genetic constitution of chromosome 4 (1991) (1)
Abstracts of workshop presentations (Part 9 of 16) (1987) (1)
The Molecular Basis for the Link Between Maternal Health and the Origin of Fetal Congenital Abnormalities: An overview of Association with Oxidative Stress (2018) (1)
REVIEW ARTICLE Sexual Dimorphism in Non-Mendelian Inheritance (2008) (1)
Reply to Gilchrist (1994) (1)
Toward the gene(s) for Wiedemann-Beckwith syndrome and associated tumors in 11p15 (1994) (0)
[Molecular genetics of heart diseases. A familial approach]. (1991) (0)
Hyperinsulinism in infancy: classification of disease according to K ATP channel function in a cohort of 72 patients (2001) (0)
Extended Haplotypes and Linkage Disequilibrium between I I Markers at the APOA IC 3-A 4 Gene Cluster on Chromosome (2006) (0)
Early nutrition, epigenetics and sexual dimorphism: divergent developmental programming trajectories may provide sex-specific cues for dietary alleviation (2012) (0)
European Group of Hyperinsulinism. Hyperinsulinemic hypoglycemia in children. (2004) (0)
[Gene dosage and chromosome enzymatic markers]. (1978) (0)
[Assessment of the myocardial infarct size and kinetic study of the necrosis process by serial determinations of creatine kinase]. (1978) (0)
Altered DNA methylation pattern in the transient neonatal diabetes determined by the genomic sequencing method. (2002) (0)
Maternal preconceptional weight loss: Impact on feto-placental development and on epigenetic machinery genes expression (2015) (0)
Subject Index Vol. 62, 1993 (1993) (0)
Myotonic Dystrophy: Increased expression of the normal allele in CDM infants muscle (1994) (0)
Abstracts for the committee on the genetic constitution of the X chromosome (Part 2 of 3) (2004) (0)
Assignment of the human TAFII30 gene (TAF2H) to human chromosome band 11p15.3 using somatic cell hybrids. (1997) (0)
Subject index Vol. 46, 1987 (1987) (0)
A note on the use of HGML LIT literature file numbers (1989) (0)
[Prometaphase cytogenetic study of 13 cases of Wilms' tumor without aniridia]. (1983) (0)
Abstracts dscribing resources, technological and other developments (1991) (0)
Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
Molecular Basis of Epigenetic Memory (2007) (0)
[Antioncogenes: models for tumors in children]. (1991) (0)
HYPERINSULINISM Genetics of neonatal hyperinsulinism (2000) (0)
Proceedings of the founding meeting of SF-DOHaD (2013) (0)
Lukaszewski , Sophie rats putative involvement in fetoplacental growth defects in mitochondrial biogenesis and bioenergetic efficiency : Maternal calorie restriction modulates placental (2012) (0)
Expression of epigenetic machinery genes is sensitive to maternal obesity and weight loss in relation to fetal growth in mice (2016) (0)
Strain-specific changes in nucleus accumbens transcriptome and motivation for food reward in mice exposed to maternal separation (2023) (0)
Nutrigenetics of cardiovascular risk: genetic grounds and nutrition. (2003) (0)
Index by Keyword (1989) (0)
The human MyoDl ( MYF 3 ) gene maps on the short arm of chromosome 11 but is not associated with the W AGR locus or the region for the Beckwith-Wiedemann syndrome (2011) (0)
Abstracts of workshop presentations (Part 13 of 16) (1987) (0)
Pre-conceptional maternal metabolic status influences hepatic metabolome in male offspring (2019) (0)
An adult case of adrenal cortical carcinoma of possible familial nature: Cytogenetic and molecular analysis (1991) (0)
Prevention and treatment of renal carcinoma: new genetic strategies. (1997) (0)
Effect of maternal obesity and preconceptional weight loss on foeto-placental growth and offspring health in mice: expression of epigenetic modifiers at the interface with metabolism (2019) (0)
Abstracts for the committee on the genetic constitution of chromosome 19 (1991) (0)
Epigenetics of sexual dimorphism under different maternal diets in mouse placenta (2013) (0)
Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia (2005) (0)
(2016). Depot- and sex-specific effects of maternal obesity in offspring's adipose tissue. Journal of Endocrinology , 230 (1), 39-53. (2019) (0)
Early life exposure to stressors promotes pancreatic carcinogenesis in KC mice (2016) (0)
New Editors, Features and Procedures (1989) (0)
A pedigree with a large deletion in the LDL receptor gene and unexpected lipid levels: Association with specific DNA haplotype (1990) (0)
Index: Authors of Abstracts (2017) (0)
Abstracts for the committee on the genetic constitution of chromosome 5 (1991) (0)
Abstracts for the comparative subcommittee on human and mouse homologies (1991) (0)
Sex-specific epigenetic impact of preconceptional maternal weight loss on foeto-placental development (2014) (0)
Genotype–phenotype correlation in von Hippel‐Lindau families with renal lesions (2004) (0)
Infant nutrition: an opportunity to optimize future health (2013) (0)
The apelinergic system is implicated in fetoplacental development and is a target in developmental nutritional programming (2013) (0)
[Mechanism of parathyroid cell proliferation in primary hyperparathyroidism]. (1991) (0)
[A child with a ring 18 chromosome : 46,XX,r(18) and a decreased enzymatic activity of erythrocyte peptidase A (author's transl)]. (1979) (0)
Anderson's disease: Genetic exclusion of the apoB gene in two families (1990) (0)
PNS volume 69 issue 2 Cover and Front matter (2010) (0)
Contents, Vol. 46, 1987/ Title Page / Table of Contents (1987) (0)
Abstracts for the committee on clinical disorders and chromosomal deletion syndromes (1991) (0)
[Rational basis for a choice of enzymes in physiopathology (proceedings)]. (1978) (0)
Programming of a sex-specific high fat diet-resistance phenotype: Epigenetic mechanisms (2013) (0)
Characteristics ofIntergenerationa l Contractions oftheCTG RepeatinMyotonic Dystrophy (1994) (0)
Detection of an EcoRI restriction fragment length polymorphism in the gene encoding the human TBP associated factor II 30 (TAFII30) (1997) (0)
Abstracts for the committee on linkage and gene order (1991) (0)
Abstracts for the committee on the genetic constitution of chromosome 20 (1991) (0)
Abstractsfor the informatics committee (1991) (0)
Abstracts for the committee on the genetic constitution of chromosome 18 (1991) (0)
[Technics of genetic recombination and the human chromosomal map]. (1982) (0)
Beckwith-Wiedemann syndrome and imprinting (1992) (0)
Index of GDB source ID numbers (1991) (0)
Abstractsfor the DNA committee (1991) (0)
Index: Authors of Abstracts (2016) (0)
Abstracts for the committee on the genetic constitution of chromosome 8 (1991) (0)
microarraysby comparing with monozygotic twins using Assessing natural variations in gene expression in (2011) (0)
Sex-specific changes in placental gene expression and epigenetic pattern induced by maternal high fat diet (2011) (0)
Abstracts for the committee on the genetic constitution of chromosome 21 (1991) (0)
Contents Vol. 113, 2006 (2006) (0)
Genes of susceptibility to cancer. (1989) (0)
1.P.275 Results of the molecular analysis of the 220 point mutations in the human LDL receptor gene database (1997) (0)
Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
Index by Abstract Number (1989) (0)
Beckwith-Wiedemann syndrome, associated tumors, region 11p15.5, and imprinting (1992) (0)
[Sesquialter dosage effect of erythrocytic and leucocytic nucleoside phosphorylase in two patients with proximal trisomy 14q (author's transl)]. (1980) (0)
Sexual dimorphism 24 / 02 / 09 1 Sexual Dimorphism in Environmental Epigenetic Programming (2019) (0)
Genes, lipids and cardiovascular diseases: nutrigenomics and nutrigenetics (2002) (0)
Deletion mapping of chromosomes 14, 8, 17, and 18 in 148 renal carcinomas with microsatellites (CA)n and correlation with clinicopathological features (1994) (0)
[Antioncogenes in tumors in children]. (1990) (0)
Chromosomal assignment of a second locus for Marfan Syndrome To Chromosome 3 p 24 . 2p 25 . (2017) (0)
Abstracts for the committee on the genetic constitution of chromosome 14 (1991) (0)
S4-2: Sex-specific increased resistance to diet induced obesity in offspring of obese & diabetic mothers fed a control diet during gestation: Transcriptional and epigenetic signatures associated with peripheral leptin-resistance (2013) (0)
[Marfan syndrome. Current molecular data]. (1992) (0)
Wiedemann-Beckwith syndrome (1993) (0)
Towards the identification of a third gene involved in familial type IIa hypercholesterolemia by exclusion mapping in two families (1995) (0)
Abstracts for the committee on the mitochondrial genome (1991) (0)
Subject Index Vol. 58, 1991 (1991) (0)
" Marfan syndrome " to " a Marfan-like disorder (2007) (0)

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