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1. Giraudeau, F; Taine, L; Biancalana, V; Delobel, B; Journel, H; Missirian, C; Lacombe, D; Bonneau, D; Parent, P; Aubert, D; Hauck, Y; Croquette, MF; Toutain, A; Mattei, MG; Loiseau, HA; David, A; Vergnaud, G
   Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation
   JOURNAL OF MEDICAL GENETICS
   
   F. Giraudeau et al., "Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation", J MED GENET, 38(2), 2001, pp. 121-125
2. de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V
   A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
   JOURNAL OF MEDICAL GENETICS
   
   P. de Lonlay et al., "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases", J MED GENET, 38(1), 2001, pp. 14-19
3. Verloes, A; Lesenfants, S; Barr, M; Grange, DK; Journel, H; Lombet, J; Mortier, G; Roeder, E
   Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   A. Verloes et al., "Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia", AM J MED G, 90(5), 2000, pp. 407-422
4. Scotet, V; de Braekeleer, M; Roussey, M; Rault, G; Parent, P; Dagorne, M; Journel, H; Lemoigne, A; Codet, JP; Catheline, M; David, V; Chaventre, A; Dugueperoux, I; Verlingue, C; Quere, I; Mercier, B; Audrezet, MP; Ferec, C
   Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis
   LANCET
   
   V. Scotet et al., "Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis", LANCET, 356(9232), 2000, pp. 789-794
5. CORMIERDAIRE V; WOLF C; LEMERRER M; NIVELON A; BONNEAU D; JOURNEL H; FELLMANN F; MUNNICH A; ROUX C
   ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ AND THE LETHAL ACRODYSGENITAL SYNDROMES
   American journal of medical genetics
   
   V. Cormierdaire et al., "ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ AND THE LETHAL ACRODYSGENITAL SYNDROMES", American journal of medical genetics, 68(3), 1997, pp. 2-2
6. MATHIEU M; PIUSSAN C; THEPOT F; GOUGET A; LACOMBE D; PEDESPAN JM; SERVILLE F; FONTAN D; RUFFIE M; NIVELONCHEVALLIER A; AMBLARD F; CHAUVEAU P; MOIROT H; CHABROLLE JP; CROQUETTE MF; TEYSSIER M; PLAUCHU H; PELISSIER MC; GILGENKRANTZ S; TURCCAREL C; TURLEAU C; PRIEUR M; LEMERRER M; GONZALES M; JOYE N; TAILLEMITE JL; BOUILLIE J; ESCHARD C; MOTTE J; JOURNEL H
   COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P OR PALLISTER-KILLIAN-SYNDROME (19 FETUSES OR CHILDREN)
   Annales de genetique
   
   M. Mathieu et al., "COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P OR PALLISTER-KILLIAN-SYNDROME (19 FETUSES OR CHILDREN)", Annales de genetique, 40(1), 1997, pp. 45-54
7. CORMIERDAIRE V; WOLF C; MUNNICH A; LEMERRER M; NIVELON A; BONNEAU D; JOURNEL H; FELLMANN F; CHEVY F; ROUX C
   ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ AND THE LETHAL ACRODYSGENITAL SYNDROMES
   European journal of pediatrics
   
   V. Cormierdaire et al., "ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ AND THE LETHAL ACRODYSGENITAL SYNDROMES", European journal of pediatrics, 155(8), 1996, pp. 656-659
8. FEREC C; VERLINGUE C; PARENT P; MORIN JF; CODET JP; RAULT G; DAGORNE M; LEMOIGNE A; JOURNEL H; ROUSSEY M; LEMAREC B; CATHELINE M; AUDREZET MP; MERCIER B
   NEONATAL SCREENING FOR CYSTIC-FIBROSIS - RESULT OF A PILOT-STUDY USING BOTH IMMUNOREACTIVE TRYPSINOGEN AND CYSTIC-FIBROSIS GENE MUTATION ANALYSES
   Human genetics
   
   C. Ferec et al., "NEONATAL SCREENING FOR CYSTIC-FIBROSIS - RESULT OF A PILOT-STUDY USING BOTH IMMUNOREACTIVE TRYPSINOGEN AND CYSTIC-FIBROSIS GENE MUTATION ANALYSES", Human genetics, 96(5), 1995, pp. 542-548
9. BONNEAU D; SOUIED E; GERBER S; ROZET JM; DHAENS E; JOURNEL H; PLESSIS G; WEISSENBACH J; MUNNICH A; KAPLAN J
   NO EVIDENCE OF GENETIC-HETEROGENEITY IN DOMINANT OPTIC ATROPHY
   Journal of Medical Genetics
   
   D. Bonneau et al., "NO EVIDENCE OF GENETIC-HETEROGENEITY IN DOMINANT OPTIC ATROPHY", Journal of Medical Genetics, 32(12), 1995, pp. 951-953
10. MATHIEU M; PIUSSAN C; THEPOT F; SERVILLE F; FONTA D; RUFFLER M; NIVELONCHEVALLIER A; TURCCAREL C; CHAUVEAU P; MOIROT H; CHABROLLE JP; MOTTE J; ESCHARD C; CROQUETTE MF; JOURNEL H; TURLEAU C; GOUGET A; PELISSIER MC; TEYSSIER M; PLAUCHU H; AMBLARD F; GILGENKRANZ S; LEMERRER M; PRIEUR M
    IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVESTUDY OF MOSAIC TETRASOMY 12P
    American journal of human genetics
    
    M. Mathieu et al., "IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVESTUDY OF MOSAIC TETRASOMY 12P", American journal of human genetics, 57(4), 1995, pp. 532-532
11. SCHRANDERSTUMPEL C; MEINECKE P; WILSON G; GILLESSENKAESBACH G; TINSCHERT S; KONIG R; PHILIP N; RIZZO R; SCHRANDER J; PFEIFFER L; MAATKIEVIT A; VANDERBURGT I; VANESSEN T; LATTA E; HILLIG U; VERLOES A; JOURNEL H; FRYNS JP
    THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS
    European journal of pediatrics
    
    C. Schranderstumpel et al., "THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS", European journal of pediatrics, 153(6), 1994, pp. 438-445
12. LEBRIS MJ; GIOVANGRANDI Y; AUDREZET MP; JOURNEL H; FEREC C
    CONFINED PLACENTAL TRISOMY-7 - PITFALL FOR CYSTIC-FIBROSIS PRENATAL-DIAGNOSIS
    Lancet
    
    M.J. Lebris et al., "CONFINED PLACENTAL TRISOMY-7 - PITFALL FOR CYSTIC-FIBROSIS PRENATAL-DIAGNOSIS", Lancet, 344(8921), 1994, pp. 556-556
13. EDERY P; PELET A; MULLIGAN LM; ABEL L; ATTIE T; DOW E; BONNEAU D; DAVID A; FLINTOFF W; JAN D; JOURNEL H; LACOMBE D; LEMERRER M; MEIJERS C; PARENT P; PHILIP N; PLAUCHU H; SARDA P; VERLOES A; NIHOULFEKETE C; WILLIAMSON R; PONDER BAJ; MUNNICH A; LYONNET S
    LONG-SEGMENT AND SHORT SEGMENT FAMILIAL HIRSCHSPRUNGS-DISEASE - VARIABLE CLINICAL EXPRESSION AT THE RET LOCUS
    Journal of Medical Genetics
    
    P. Edery et al., "LONG-SEGMENT AND SHORT SEGMENT FAMILIAL HIRSCHSPRUNGS-DISEASE - VARIABLE CLINICAL EXPRESSION AT THE RET LOCUS", Journal of Medical Genetics, 31(8), 1994, pp. 602-606
14. DORVAL I; ODENT S; JEZEQUEL P; JOURNEL H; CHAUVEL B; DABADIE A; ROUSSEY M; LEGALL JY; LEMAREC B; DAVID V; BLAYAU M
    ANALYSIS OF 160-CF CHROMOSOMES - DETECTION OF A NOVEL MUTATION IN EXON-20
    Human genetics
    
    I. Dorval et al., "ANALYSIS OF 160-CF CHROMOSOMES - DETECTION OF A NOVEL MUTATION IN EXON-20", Human genetics, 91(3), 1993, pp. 254-256