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Results: 1-25/55
Authors:
SAUGIERVEBER P
MARTIN C
LEMEUR N
LYONNET S
MUNNICH A
DAVID A
HENOCQ A
HERON D
JONVEAUX P
ODENT S
MANOUVRIER S
MONCLA A
MORICHON N
PHILIP N
SATGE D
TOSI M
FREBOURG T
Citation: P. Saugierveber et al., IDENTIFICATION OF NOVEL L1CAM MUTATIONS USING FLUORESCENCE-ASSISTED MISMATCH ANALYSIS, Human mutation, 12(4), 1998, pp. 259-266
Authors:
RICHARD MA
GROB JJ
PHILIP N
REY J
CHAMSON A
MEGE JL
ANDRAC L
FAURE F
BASSERES N
BONERANDI JJ
Citation: Ma. Richard et al., PHYSIOPATHOGENIC INVESTIGATIONS IN A CASE OF FAMILIAL STIFF-SKIN SYNDROME, Dermatology, 197(2), 1998, pp. 127-131
Authors:
PEDEILLIER K
SIGAUDY S
MONCLA A
MILLET V
PHILIP N
VOELCKEL MA
Citation: K. Pedeillier et al., ANDROGEN INSENSITIVITY WITH ANHIDROTIC ECTODERMAL DYSPLASIA - A NEW CONTIGUOUS GENE SYNDROME, European journal of human genetics, 6, 1998, pp. 1023-1023
Authors:
PHILIP N
COLLEAUX L
SIGAUDY S
MATTEI MG
BOLLINI G
FONTES M
Citation: N. Philip et al., EXTENSIVE VERTEBRAL FUSION IN A GIRL WITH A BALANCED TRANSLOCATION-10-20, European journal of human genetics, 6, 1998, pp. 1062-1062
Authors:
MONCLA A
MALZAC P
VOELCKEL MA
GIRARDOT L
MATTEI MG
PHILIP N
MATTEI JF
LIVET MO
Citation: A. Moncla et al., PHENOTYPE-GENOTYPE CORRELATION IN 27 DELETION AND 27 NON DELETION ANGELMAN-SYNDROME PATIENTS - EVIDENCE OF A MILDER PHENOTYPE ASSOCIATED WITH NONDELETION AS PATIENTS, European journal of human genetics, 6, 1998, pp. 1065-1065
Authors:
SIGAUDY S
MONCLA A
FREDOUILLE C
BOURLIERE B
LAMBERT JC
PHILIP N
Citation: S. Sigaudy et al., CONGENITAL BOWING OF THE LONG BONES IN 2 FETUSES PRESENTING FEATURES OF STUVE-WIEDEMANN-SYNDROME AND SCHWARTZ-JAMPEL-SYNDROME TYPE-2, Clinical dysmorphology, 7(4), 1998, pp. 257-262
Authors:
TSIMARATOS M
SIGAUDY S
PHILIP N
SARLES J
Citation: M. Tsimaratos et al., ABOUT FAMILIAL INTERSTITIAL NEPHRITIS AND RETINITIS-PIGMENTOSA, Nephrology, dialysis, transplantation, 13(2), 1998, pp. 522-522
Authors:
PHILIP N
Citation: N. Philip, ANIMAL-MODELS OF CONGENITAL-MALFORMATIONS, Archives de pediatrie, 5, 1998, pp. 90-92
Authors:
SIGAUDY S
FREDOUILLE C
GAMBARELLI D
POTIER A
CASSIN D
PIQUET C
PHILIP N
Citation: S. Sigaudy et al., PRENATAL ULTRASONOGRAPHIC FINDINGS IN PROTEUS-SYNDROME, Prenatal diagnosis, 18(10), 1998, pp. 1091-1094
Authors:
MOZZICONACCI MJ
SOBOL H
PHILIP N
STOPPA AM
BRUNEL V
GRANEL B
BLAISE D
SAINTY D
BIRNBAUM D
LAFAGEPOCHITALOFF M
Citation: Mj. Mozziconacci et al., CONSTITUTIONAL BALANCED PERICENTRIC INVERSIONS OF CHROMOSOME-X, CHROMOSOME-2, AND CHROMOSOME-5 IN MYELOID MALIGNANCIES, Cancer genetics and cytogenetics, 107(1), 1998, pp. 28-31
Authors:
SIGAUDY S
TOUTAIN A
MONCLA A
FREDOUILLE C
BOURLIERE B
AYME S
PHILIP N
Citation: S. Sigaudy et al., MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TAYBI-LINDER TYPE -REPORT OF 4 CASES AND REVIEW OF THE LITERATURE, American journal of medical genetics, 80(1), 1998, pp. 16-24
Authors:
TSIMARATOS M
SARLES J
SIGAUDY S
PHILIP N
Citation: M. Tsimaratos et al., RENAL AND RETINAL INVOLVEMENT IN THE SENSENBRENNER-SYNDROME, American journal of medical genetics, 77(4), 1998, pp. 337-337
Authors:
TELLIER AL
CORMIERDAIRE V
ABADIE V
AMIEL J
SIGAUDY S
BONNET D
DELONLAYDEBENEY P
MORRISSEAUDURAND MP
HUBERT P
MICHEL JL
JAN D
DOLLFUS H
BAUMANN C
LABRUNE P
LACOMBE D
PHILIP N
LEMERRER M
BRIARD ML
MUNNICH A
LYONNET S
Citation: Al. Tellier et al., CHARGE SYNDROME - REPORT OF 47 CASES AND REVIEW, American journal of medical genetics, 76(5), 1998, pp. 402-409
Authors:
ATTARIAN S
MALZAC P
AZULAY JP
PELLISSIER JF
PHILIP N
POUGET J
Citation: S. Attarian et al., PHENOTYPE-GENOTYPE CORRELATIONS STUDIES IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, Neurology, 50(4), 1998, pp. 15006-15006
Authors:
PHILIP N
CHABROL B
LETHEL V
Citation: N. Philip et al., GENETICS OF AGENESIS OF THE CORPUS-CALLOS UM, Neuro-chirurgie, 44, 1998, pp. 99-101
Authors:
PHILIP N
SIGAUDY S
Citation: N. Philip et S. Sigaudy, COSTELLO-SYNDROME, Journal of Medical Genetics, 35(3), 1998, pp. 238-240
Authors:
TSIMARATOS M
BERARD E
SIGAUDY S
ALMAHANA T
DELARUE A
ROQUELAURE B
COSTET C
ANTIGNAC C
GUBLER MC
PICON G
PHILIP N
SARLES J
Citation: M. Tsimaratos et al., CHRONIC-RENAL-FAILURE AND CRANIOECTODERMAL DYSPLASIA - A FURTHER STEP, Pediatric nephrology, 11(6), 1997, pp. 785-786
Authors:
LIVET MO
MONCLA A
DELOBEL B
CROQUETTE MF
PHILIP N
VALLEE L
Citation: Mo. Livet et al., THE SMITH-MAGENIS-SYNDROME, Archives de pediatrie, 4(12), 1997, pp. 1231-1237
Authors:
PHILIP N
SIGAUDY S
CHABROL B
Citation: N. Philip et al., BEHAVIORAL PHENOTYPES, Archives de pediatrie, 4(10), 1997, pp. 1043-1045
Authors:
LEVYMOZZICONACCI A
PIQUET C
HEURTEVIN PC
PHILIP N
Citation: A. Levymozziconacci et al., PRENATAL-DIAGNOSIS OF 22Q11 MICRODELETION, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 161-161
Authors:
LEVYMOZZICONACCI A
PIQUET C
HEURTEVIN PC
PHILIP N
Citation: A. Levymozziconacci et al., PRENATAL-DIAGNOSIS OF 22Q11 MICRODELETION, Prenatal diagnosis, 17(11), 1997, pp. 1033-1037
Authors:
CHABROL B
SIGAUDY S
PAQUIS V
MONTFORT MF
GIUDICELLI H
PELLISSIER JF
MILLET V
MANCINI J
PHILIP N
Citation: B. Chabrol et al., STUVE-WIEDEMANN SYNDROME AND DEFECTS OF THE MITOCHONDRIAL RESPIRATORY-CHAIN, American journal of medical genetics, 72(2), 1997, pp. 222-226
Authors:
AYME S
PHILIP N
Citation: S. Ayme et N. Philip, APPARENTLY NEW SYNDROME OF CONGENITAL CATARACTS, SENSORINEURAL DEAFNESS, DOWN-SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL-RETARDATION, American journal of medical genetics, 70(3), 1997, pp. 333-333
Authors:
LEVY A
MICHEL G
LEMERRER M
PHILIP N
Citation: A. Levy et al., IDIOPATHIC THROMOBOCYTOPENIC PURPURA IN 2 MOTHERS OF CHILDREN WITH DIGEORGE SEQUENCE - A NEW COMPONENT MANIFESTATION OF DELETION 22Q11, American journal of medical genetics, 69(4), 1997, pp. 356-359
Authors:
CHABROL B
CARRELET P
DUBUS JC
BOLLINI G
PELLISSIER JF
LAMOUREUX S
PHILIP N
MANCINI J
Citation: B. Chabrol et al., INFANTILE SPINAL MUSCULAR-ATROPHY - CURRE NT ASPECTS, Annales de pediatrie, 44(1), 1997, pp. 26-30