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Results: 1-25 | 26-29
Results: 1-25/29
BONE DYSPLASIAS - AN INTRODUCTION
Authors: AZOUZ EM TEEBI AS EYDOUX P CHEN MF FASSIER F
Citation: Em. Azouz et al., BONE DYSPLASIAS - AN INTRODUCTION, Canadian Association of Radiologists journal, 49(2), 1998, pp. 105-109
DELETION OF 22Q11 IN 2 BROTHERS WITH DIFFERENT PHENOTYPE
Authors: KASPRZAK L KALOUSTIAN VMM ELLIOTT AM SHEVELL M LEJTENYI C EYDOUX P
Citation: L. Kasprzak et al., DELETION OF 22Q11 IN 2 BROTHERS WITH DIFFERENT PHENOTYPE, American journal of medical genetics, 75(3), 1998, pp. 288-291
RANDOMIZED TRIAL TO ASSESS SAFETY AND FETAL-OUTCOME OF EARLY AND MIDTRIMESTER AMNIOCENTESIS
Authors: WILSON RD JOHNSON JM DANSEREAU J SINGER J DRINNAN SL WINSOR EJT SOANES S KALOUSEK D HILLIER J HO MF BROWN J WYATT P FARRELL S OFARRELL J CHADWICK D NATALE R MITCHELL C FAN YS MOHIDE P BEECROFT ML TOMKINS DJ CARTER R BENZIE R MACLEAN B WANG HS DALLAIRE L DESROCHERS M TIHY F EYDOUX P PROVENCHER S CARTIER L ARMSON BA HOGG H WELCH JP HARMAN C BABAIAN K DAWSON A OKUN N PARK M LIN JCC ROBINSON G SUMMERS A
Citation: Rd. Wilson et al., RANDOMIZED TRIAL TO ASSESS SAFETY AND FETAL-OUTCOME OF EARLY AND MIDTRIMESTER AMNIOCENTESIS, Lancet, 351(9098), 1998, pp. 242-247
SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY WITH NORMAL INTELLIGENCE, AND XY SEX REVERSAL - A NEW AUTOSOMAL RECESSIVE SYNDROME
Authors: TEEBI AS MILLER S OSTRER H EYDOUX P COLOMBBROCKMANN C OUDJHANE K WATTERS G
Citation: As. Teebi et al., SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY WITH NORMAL INTELLIGENCE, AND XY SEX REVERSAL - A NEW AUTOSOMAL RECESSIVE SYNDROME, Journal of Medical Genetics, 35(9), 1998, pp. 759-762
ASSIGNMENT OF RENAL-SPECIFIC NA-PHOSPHATE COTRANSPORTER GENE SLC17A2 TO MOUSE-CHROMOSOME BAND 13B BY IN-SITU HYBRIDIZATION()
Authors: ZHANG XX TENENHOUSE HS HEWSON AS MURER H EYDOUX P
Citation: Xx. Zhang et al., ASSIGNMENT OF RENAL-SPECIFIC NA-PHOSPHATE COTRANSPORTER GENE SLC17A2 TO MOUSE-CHROMOSOME BAND 13B BY IN-SITU HYBRIDIZATION(), Cytogenetics and cell genetics, 77(3-4), 1997, pp. 304-305
ASSIGNMENT OF HOLOCARBOXYLASE SYNTHETASE GENE (HLCS) TO HUMAN-CHROMOSOME BAND 21Q22.1 AND TO MOUSE CHROMOSOME BAND 16C4 BY IN-SITU HYBRIDIZATION
Authors: ZHANG XX LEONDELRIO A GRAVEL RA EYDOUX P
Citation: Xx. Zhang et al., ASSIGNMENT OF HOLOCARBOXYLASE SYNTHETASE GENE (HLCS) TO HUMAN-CHROMOSOME BAND 21Q22.1 AND TO MOUSE CHROMOSOME BAND 16C4 BY IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 76(3-4), 1997, pp. 179-179
ASSIGNMENT OF RENAL SPECIFIC NA-PHOSPHATE COTRANSPORTER GENE SLC17A1 TO MOUSE CHROMOSOME BANDS 13A3-]A4 BY IN-SITU HYBRIDIZATION()
Authors: ZHANG XX TENENHOUSE HS HEWSON AS EYDOUX P
Citation: Xx. Zhang et al., ASSIGNMENT OF RENAL SPECIFIC NA-PHOSPHATE COTRANSPORTER GENE SLC17A1 TO MOUSE CHROMOSOME BANDS 13A3-]A4 BY IN-SITU HYBRIDIZATION(), Cytogenetics and cell genetics, 76(3-4), 1997, pp. 180-180
PRENATAL-DIAGNOSIS FOR INBORN-ERRORS OF METABOLISM AND HEMOGLOBINOPATHIES - THE MONTREAL-CHILDRENS-HOSPITAL EXPERIENCE
Authors: SASI K SANDERSON D EYDOUX P CARTIER L SCRIVER CR TREACY E
Citation: K. Sasi et al., PRENATAL-DIAGNOSIS FOR INBORN-ERRORS OF METABOLISM AND HEMOGLOBINOPATHIES - THE MONTREAL-CHILDRENS-HOSPITAL EXPERIENCE, Prenatal diagnosis, 17(7), 1997, pp. 681-685
LARGE DICENTRIC CHROMOSOME 15Q11Q13 DUPLICATIONS - MULTIPLE REGIONS OF BREAKAGE, MECHANISMS OF FORMATION AND CLINICAL FINDINGS
Authors: KNOLL KHM REPETTO G DERKALOUSTIAN V MUNDLOS C EYDOUX P KORF B WHITE LM
Citation: Khm. Knoll et al., LARGE DICENTRIC CHROMOSOME 15Q11Q13 DUPLICATIONS - MULTIPLE REGIONS OF BREAKAGE, MECHANISMS OF FORMATION AND CLINICAL FINDINGS, American journal of human genetics, 61(4), 1997, pp. 23-23
TELOMERIC FISH ANALYSIS - THE USE OF TELOMERIC PROBES FOR THE CHARACTERIZATION OF VISIBLE CHROMOSOME REARRANGEMENTS USING FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: BIELANSKA M WANG JC LAGOUSAKOS N BIELANSKA MM DEMCZUK S EYDOUX P
Citation: M. Bielanska et al., TELOMERIC FISH ANALYSIS - THE USE OF TELOMERIC PROBES FOR THE CHARACTERIZATION OF VISIBLE CHROMOSOME REARRANGEMENTS USING FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of human genetics, 61(4), 1997, pp. 672-672
JUBERG-MARSIDI-SYNDROME ASSOCIATED WITH AN INHERITED PARACENTRIC INVERSION OF CHROMOSOME-X
Authors: EYDOUX P HEWSON S SCARPELLI H HALAL F TEEBI AS
Citation: P. Eydoux et al., JUBERG-MARSIDI-SYNDROME ASSOCIATED WITH AN INHERITED PARACENTRIC INVERSION OF CHROMOSOME-X, American journal of human genetics, 61(4), 1997, pp. 703-703
FETAL KARYOTYPING IN PREGNANCIES WITH CHOROID-PLEXUS CYSTS DETECTED THROUGH ULTRASOUND - RESULTS AND POLICY
Authors: CARTIER L RUPPS R PROVENCHER S HAMILTON E MORIN L KHALIFE S EYDOUX P
Citation: L. Cartier et al., FETAL KARYOTYPING IN PREGNANCIES WITH CHOROID-PLEXUS CYSTS DETECTED THROUGH ULTRASOUND - RESULTS AND POLICY, American journal of human genetics, 61(4), 1997, pp. 850-850
ESTABLISHMENT OF A TRANSCRIPTION MAP IN THE 22Q11.2 MICRODELETION SYNDROME CRITICAL REGION
Authors: DEMCZUK S AURIAS A EYDOUX P
Citation: S. Demczuk et al., ESTABLISHMENT OF A TRANSCRIPTION MAP IN THE 22Q11.2 MICRODELETION SYNDROME CRITICAL REGION, American journal of human genetics, 61(4), 1997, pp. 1355-1355
CHARACTERIZATION OF CLONAL CHROMOSOME REARRANGEMENTS USING FISH IN A CELL-LINE DERIVED FROM OVARIAN EPITHELIAL CANCER (EOC)
Authors: WANG JC LAGOUSAKOS N BIELANSKA MM MESMASSON AM TONIN P PROVENCHER D DEMCZUK S EYDOUX P
Citation: Jc. Wang et al., CHARACTERIZATION OF CLONAL CHROMOSOME REARRANGEMENTS USING FISH IN A CELL-LINE DERIVED FROM OVARIAN EPITHELIAL CANCER (EOC), American journal of human genetics, 61(4), 1997, pp. 2139-2139
HUMAN METHIONINE SYNTHASE - CDNA CLONING AND IDENTIFICATION OF MUTATIONS IN PATIENTS OF THE CBLG COMPLEMENTATION GROUP OF FOLATE COBALAMIN DISORDERS/
Authors: LECLERC D CAMPEAU E GOYETTE P ADJALLA CE CHRISTENSEN B ROSS M EYDOUX P ROSENBLATT DS ROZEN R GRAVEL RA
Citation: D. Leclerc et al., HUMAN METHIONINE SYNTHASE - CDNA CLONING AND IDENTIFICATION OF MUTATIONS IN PATIENTS OF THE CBLG COMPLEMENTATION GROUP OF FOLATE COBALAMIN DISORDERS/, Human molecular genetics, 5(12), 1996, pp. 1867-1874
CHILDHOOD HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY
Authors: POULIN C MATTHEWS P GENGE A EYDOUX P SHEVELL M VANASSE M SILVER K
Citation: C. Poulin et al., CHILDHOOD HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY, Annals of neurology, 40(2), 1996, pp. 159-159
NEW FORM OF BONE DYSPLASIA WITH MULTIPLE FRACTURES ASSOCIATED WITH MONOSOMY-X
Authors: AZOUZ EM CHEN MF KHALIFE S CARTIER L EYDOUX P
Citation: Em. Azouz et al., NEW FORM OF BONE DYSPLASIA WITH MULTIPLE FRACTURES ASSOCIATED WITH MONOSOMY-X, American journal of medical genetics, 66(2), 1996, pp. 163-168
POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME
Authors: DERKALOUSTIAN VM KLEIJER W BOOTH A AUERBACH AD MAZER B ELLIOTT AM ABISH S USHER R WATTERS G VEKEMANS M EYDOUX P
Citation: Vm. Derkaloustian et al., POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME, American journal of medical genetics, 65(1), 1996, pp. 21-26
SKELETAL AND CARDIAC-MALFORMATIONS WITH THROMBOCYTOPENIA - A NEW SYNDROME
Authors: RUPPS R ELLIOTT AM AZOUZ EM BERNSTEIN ML KAPLAN P EYDOUX P DERKALOUSTIAN VM
Citation: R. Rupps et al., SKELETAL AND CARDIAC-MALFORMATIONS WITH THROMBOCYTOPENIA - A NEW SYNDROME, American journal of medical genetics, 64(3), 1996, pp. 497-500
CELLULAR IMMUNODEFICIENCY WITH ELEVATED IGE AND A NEW 840 ANOMALY OF CHROMOSOME-22
Authors: KAGAN RS KALOUSTIAN VMD EYDOUX P MAZER BD
Citation: Rs. Kagan et al., CELLULAR IMMUNODEFICIENCY WITH ELEVATED IGE AND A NEW 840 ANOMALY OF CHROMOSOME-22, Journal of allergy and clinical immunology, 97(1), 1996, pp. 838-838
TRANSLOCATION BETWEEN CHROMOSOME-6 AND CHROMOSOME-15 (45,XX,T(6-15)(Q25-Q11.2)) WITH FURTHER EVIDENCE FOR LACK OF IMPRINTING OF THE INSULIN-LIKE GROWTH-FACTOR-II MANNOSE-6-PHOSPHATE RECEPTOR IN HUMANS
Authors: TREACY E POLYCHRONAKOS C VEKEMANS M EYDOUX P BLAICHMAN S SCARPELLI H ROSS M XU YQ KALOUSTIAN VMD
Citation: E. Treacy et al., TRANSLOCATION BETWEEN CHROMOSOME-6 AND CHROMOSOME-15 (45,XX,T(6-15)(Q25-Q11.2)) WITH FURTHER EVIDENCE FOR LACK OF IMPRINTING OF THE INSULIN-LIKE GROWTH-FACTOR-II MANNOSE-6-PHOSPHATE RECEPTOR IN HUMANS, Journal of Medical Genetics, 33(1), 1996, pp. 42-46
ALTERATIONS IN EXPRESSION, BINDING TO LIGAND AND DNA, AND TRANSCRIPTIONAL ACTIVITY OF REARRANGED AND WILD-TYPE RETINOID RECEPTORS IN RETINOID-RESISTANT ACUTE PROMYELOCYTIC LEUKEMIA-CELL LINES
Authors: ROSENAUER A RAELSON JV NERVI C EYDOUX P DEBLASIO A MILLER WH
Citation: A. Rosenauer et al., ALTERATIONS IN EXPRESSION, BINDING TO LIGAND AND DNA, AND TRANSCRIPTIONAL ACTIVITY OF REARRANGED AND WILD-TYPE RETINOID RECEPTORS IN RETINOID-RESISTANT ACUTE PROMYELOCYTIC LEUKEMIA-CELL LINES, Blood, 88(7), 1996, pp. 2671-2682
SEVERE INTRAUTERINE GROWTH-RETARDATION WITH INCREASED MITOMYCIN-C SENSITIVITY, OR NIJMEGEN BREAKAGE SYNDROME
Authors: DERKALOUSTIAN VM ELLIOTT AM EYDOUX P
Citation: Vm. Derkaloustian et al., SEVERE INTRAUTERINE GROWTH-RETARDATION WITH INCREASED MITOMYCIN-C SENSITIVITY, OR NIJMEGEN BREAKAGE SYNDROME, Journal of Medical Genetics, 32(12), 1995, pp. 998-998
SKELETAL AND CARDIAC-MALFORMATIONS WITH THROMBOCYTOPENIA - A NEW SYNDROME
Authors: ELLIOTT AM RUPPS R AZOUZ EM BERNSTEIN ML EYDOUX P KAPLAN P DERKALOUSTIAN VM
Citation: Am. Elliott et al., SKELETAL AND CARDIAC-MALFORMATIONS WITH THROMBOCYTOPENIA - A NEW SYNDROME, American journal of human genetics, 57(4), 1995, pp. 479-479
INCREASED RATE OF CONGENITAL HEART-DEFECTS AMONG THE INUIT OF BAFFIN-ISLAND
Authors: GILPIN CA ARBOUR L PEKELES G PAQUET M EYDOUX P
Citation: Ca. Gilpin et al., INCREASED RATE OF CONGENITAL HEART-DEFECTS AMONG THE INUIT OF BAFFIN-ISLAND, American journal of human genetics, 57(4), 1995, pp. 495-495
Risultati: 1-25 | 26-29