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Results: 1-22 |
Results: 22
IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA
Authors: MORNET E TAILLANDIER A PEYRAMAURE S KAPER F MULLER F BRENNER R BUSSIERE P FREISINGER P GODARD J LEMERRER M OURY JF PLAUCHU H PUDDU R RIVAL JM SUPERTIFURGA A TOURAINE RL SERRE JL SIMONBOUY B
Citation: E. Mornet et al., IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA, European journal of human genetics, 6(4), 1998, pp. 308-314
EHLERS-DANLOS-SYNDROMES - WERE ALL CONCERNED
Authors: DEWAZIERES B PLAUCHU H BOUCAND MH
Citation: B. Dewazieres et al., EHLERS-DANLOS-SYNDROMES - WERE ALL CONCERNED, La Presse medicale, 27(31), 1998, pp. 1582-1584
CONNEXIN-26 GENE LINKED TO A DOMINANT DEAFNESS
Authors: DENOYELLE F LINAGRANADE G PLAUCHU H BRUZZONE R CHAIB H LEVIACOBAS F WEIL D PETIT C
Citation: F. Denoyelle et al., CONNEXIN-26 GENE LINKED TO A DOMINANT DEAFNESS, Nature, 393(6683), 1998, pp. 319-320
NON-C282Y FAMILIAL IRON OVERLOAD - EVIDENCE FOR LOCUS HETEROGENEITY IN HEMOCHROMATOSIS
Authors: PINSON S YAOUANQ J JOUANOLLE AM TURLIN B PLAUCHU H
Citation: S. Pinson et al., NON-C282Y FAMILIAL IRON OVERLOAD - EVIDENCE FOR LOCUS HETEROGENEITY IN HEMOCHROMATOSIS, Journal of Medical Genetics, 35(11), 1998, pp. 954-956
NEUROSARCOMA IN A PATIENT WITH TYPE-1 NEU ROFIBROMATOSIS
Authors: LIGNEAU B FREYER G GIRAUD S ISAAC S BOMBARON P ESPINOUSE D PLAUCHU H FISCHER G GERARD JP LENOIR G TRILLETLENOIR V
Citation: B. Ligneau et al., NEUROSARCOMA IN A PATIENT WITH TYPE-1 NEU ROFIBROMATOSIS, La Presse medicale, 26(10), 1997, pp. 458-463
AN EXTENSION OF THE ADMIXTURE TEST FOR THE STUDY OF GENETIC-HETEROGENEITY IN HEREDITARY MULTIPLE EXOSTOSES
Authors: LEGEAIMALLET L MARGARITTEJEANNIN P LEMDANI M LEMERRER M PLAUCHU H MAROTEAUX P MUNNICH A CLERGETDARPOUX F
Citation: L. Legeaimallet et al., AN EXTENSION OF THE ADMIXTURE TEST FOR THE STUDY OF GENETIC-HETEROGENEITY IN HEREDITARY MULTIPLE EXOSTOSES, Human genetics, 99(3), 1997, pp. 298-302
TORIELLO-CAREY SYNDROME
Authors: TILL M BOURGEOIS J PLAUCHU H
Citation: M. Till et al., TORIELLO-CAREY SYNDROME, American journal of medical genetics, 70(3), 1997, pp. 332-332
FREQUENCY AND CLINICAL PROFILE OF FAMILIA L PARKINSONS-DISEASE - A STUDY OF 428 INDEX-CASES FROM A DEPARTMENT OF NEUROLOGY
Authors: BROUSSOLLE E DEFUENTES G PLAUCHU H CHAZOT G
Citation: E. Broussolle et al., FREQUENCY AND CLINICAL PROFILE OF FAMILIA L PARKINSONS-DISEASE - A STUDY OF 428 INDEX-CASES FROM A DEPARTMENT OF NEUROLOGY, Revue neurologique, 153(6-7), 1997, pp. 406-411
COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P OR PALLISTER-KILLIAN-SYNDROME (19 FETUSES OR CHILDREN)
Authors: 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
Citation: 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
SPONTANEOUS COLON PERFORATION AS THE FIRS T MANIFESTATION OF EHLERS-DANLOS SYNDROME TYPE-IV
Authors: HENRY C GEISS S WODEY E PENNERATH A ZABOT MT PEYROL S PLAUCHU H
Citation: C. Henry et al., SPONTANEOUS COLON PERFORATION AS THE FIRS T MANIFESTATION OF EHLERS-DANLOS SYNDROME TYPE-IV, Archives de pediatrie, 3(3), 1996, pp. 287-287
A 3RD LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME 12Q (VOL 4, PG 945, 1995)
Authors: VINCENT P PLAUCHU H HAZAN J FAURE S WEISSENBACH J GODET J
Citation: P. Vincent et al., A 3RD LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME 12Q (VOL 4, PG 945, 1995), Human molecular genetics, 4(7), 1995, pp. 1243-1243
A 3RD LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME 12Q
Authors: VINCENT P PLAUCHU H HAZAN J FAURE S WEISSENBACH J GODET J
Citation: P. Vincent et al., A 3RD LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME 12Q, Human molecular genetics, 4(5), 1995, pp. 945-949
EARLY MANIFESTATIONS OF TANGIER DISEASE
Authors: LACHAUX A SASSOLAS A BOUVIER R LEGALL C LORAS I REGNIER F PLAUCHU H FROELICH P HERMIER M
Citation: A. Lachaux et al., EARLY MANIFESTATIONS OF TANGIER DISEASE, Archives de pediatrie, 2(5), 1995, pp. 447-451
SPONTANEOUS COLON PERFORATION AS THE FIRS T MANIFESTATION OF EHLERS-DANLOS SYNDROME TYPE-IV
Authors: HENRY C GEISS S WODEY E PENNERATH A ZABOT MT PEYROL S PLAUCHU H
Citation: C. Henry et al., SPONTANEOUS COLON PERFORATION AS THE FIRS T MANIFESTATION OF EHLERS-DANLOS SYNDROME TYPE-IV, Archives de pediatrie, 2(11), 1995, pp. 1067-1072
IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVESTUDY OF MOSAIC TETRASOMY 12P
Authors: 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
Citation: 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
A GENE FOR HOLT-GRAM SYNDROME MAPS TO THE DISTAL LONG ARM OF CHROMOSOME-12
Authors: BONNET D PELET A LEGEAIMALLET L SIDI D MATHIEU M PARENT P PLAUCHU H SERVILLE F SCHINZEL A WEISSENBACH J KACHANER J MUNNICH A LYONNET S
Citation: D. Bonnet et al., A GENE FOR HOLT-GRAM SYNDROME MAPS TO THE DISTAL LONG ARM OF CHROMOSOME-12, Nature genetics, 6(4), 1994, pp. 405-408
A GENE FOR HEREDITARY MULTIPLE EXOSTOSES MAPS TO CHROMOSOME 19P
Authors: LEMERRER M LEGEAIMALLET L JEANNIN PM HORSTHEMKE B SCHINZEL A PLAUCHU H TOUTAIN A ACHARD F MUNNICH A MAROTEAUX P
Citation: M. Lemerrer et al., A GENE FOR HEREDITARY MULTIPLE EXOSTOSES MAPS TO CHROMOSOME 19P, Human molecular genetics, 3(5), 1994, pp. 717-722
A GENE RESPONSIBLE FOR A DOMINANT FORM OF NEUROSENSORY NON-SYNDROMIC DEAFNESS MAPS TO THE NSRD1 RECESSIVE DEAFNESS GENE INTERVAL
Authors: CHAIB H LINAGRANADE G GUILFORD P PLAUCHU H LEVILLIERS J MORGON A PETIT C
Citation: H. Chaib et al., A GENE RESPONSIBLE FOR A DOMINANT FORM OF NEUROSENSORY NON-SYNDROMIC DEAFNESS MAPS TO THE NSRD1 RECESSIVE DEAFNESS GENE INTERVAL, Human molecular genetics, 3(12), 1994, pp. 2219-2222
PHEOCHROMOCYTOMA AS THE FIRST MANIFESTATION OF VONHIPPEL-LINDAU-DISEASE
Authors: RICHARD S BEIGELMAN C DUCLOS JM FENDLER JP PLAUCHU H PLOUIN PF RESCHE F SCHLUMBERGER M VERMESSE B PROYE C
Citation: S. Richard et al., PHEOCHROMOCYTOMA AS THE FIRST MANIFESTATION OF VONHIPPEL-LINDAU-DISEASE, Surgery, 116(6), 1994, pp. 1076-1081
ANALYZING POPULATION-STRUCTURE THROUGH TH E STUDY OF CONSANGUINITY - THE VALSERINE VALLEY FROM THE 18TH-CENTURY TO THE PRESENT
Authors: BIDEAU A BRUNET G HEYER E PLAUCHU H
Citation: A. Bideau et al., ANALYZING POPULATION-STRUCTURE THROUGH TH E STUDY OF CONSANGUINITY - THE VALSERINE VALLEY FROM THE 18TH-CENTURY TO THE PRESENT, Population, 49(1), 1994, pp. 145-160
LONG-SEGMENT AND SHORT SEGMENT FAMILIAL HIRSCHSPRUNGS-DISEASE - VARIABLE CLINICAL EXPRESSION AT THE RET LOCUS
Authors: 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
Citation: 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
HEPATIC INVOLVEMENT IN HEREDITARY HEMORRHAGIC TELANGIECTASIA - CLINICAL, RADIOLOGICAL, AND HEMODYNAMIC-STUDIES OF 11 CASES
Authors: BERNARD G MION F HENRY L PLAUCHU H PALIARD P
Citation: G. Bernard et al., HEPATIC INVOLVEMENT IN HEREDITARY HEMORRHAGIC TELANGIECTASIA - CLINICAL, RADIOLOGICAL, AND HEMODYNAMIC-STUDIES OF 11 CASES, Gastroenterology, 105(2), 1993, pp. 482-487
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