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Results: 1-25/101

RELATION OF GENOTYPE 22Q11 DELETION TO PHENOTYPE OF PULMONARY VESSELSIN TETRALOGY OF FALLOT AND PULMONARY ATRESIA-VENTRICULAR SEPTAL-DEFECT

Authors: CHESSA M BUTERA G BONHOEFFER P ISERIN L KACHANER J LYONNET S MUNNICH A SIDI D BONNET D

Citation: M. Chessa et al., RELATION OF GENOTYPE 22Q11 DELETION TO PHENOTYPE OF PULMONARY VESSELSIN TETRALOGY OF FALLOT AND PULMONARY ATRESIA-VENTRICULAR SEPTAL-DEFECT, HEART, 79(2), 1998, pp. 186-190

SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE

Authors: PINGAULT V BONDURAND N KUHLBRODT K GOERICH DE PREHU MO PULITI A HERBARTH B HERMANSBORGMEYER I LEGIUS E MATTHIJS G AMIEL J LYONNET S CECCHERINI I ROMEO G SMITH JC READ AP WEGNER M GOOSSENS M

Citation: V. Pingault et al., SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE, Nature genetics, 18(2), 1998, pp. 171-173

IDENTIFICATION OF NOVEL L1CAM MUTATIONS USING FLUORESCENCE-ASSISTED MISMATCH ANALYSIS

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

CLINICAL HOMOGENEITY OF THE STUVE-WIEDEMANN-SYNDROME AND OVERLAP WITHTHE SCHWARTZ-JAMPEL-SYNDROME TYPE-2

Authors: CORMIERDAIRE V SUPERTIFURGA A MUNNICH A LYONNET S GIEDION A MAROTEAUX P LEMERRER M

Citation: V. Cormierdaire et al., CLINICAL HOMOGENEITY OF THE STUVE-WIEDEMANN-SYNDROME AND OVERLAP WITHTHE SCHWARTZ-JAMPEL-SYNDROME TYPE-2, European journal of human genetics, 6, 1998, pp. 105-105

MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE

Authors: PINGAULT V BONDURAND N KUHLBRODT K GOERICH DE PREHU MO PULITI A LEMORT N LEGIUS E MATTHIJS G AMIEL J LYONNET S CECCHERINI I ROMEO G CLAYTONSMITH J READ AP WEGNER M GOOSSENS M

Citation: V. Pingault et al., MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE, European journal of human genetics, 6, 1998, pp. 402-402

CHROMOSOME ANALYSIS ON FIBROBLASTS OF PATIENTS WITH MCA MR SYNDROME/

Authors: VIOT G BRISSET S FERT S OZILOU C ALLARD L DEBLOIS MC RAOUL O LEMERRER M LYONNET S MUNNICH A

Citation: G. Viot et al., CHROMOSOME ANALYSIS ON FIBROBLASTS OF PATIENTS WITH MCA MR SYNDROME/, European journal of human genetics, 6, 1998, pp. 2099-2099

RET LIGANDS (GDNF, NEURTURIN) MUTATIONS IN COMBINATION WITH RET MUTATIONS - A MODEL OF MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE

Authors: SALOMON R DORAY B AMIEL J PELET A ATTIE T BACHY B MUNNICH A LYONNET S

Citation: R. Salomon et al., RET LIGANDS (GDNF, NEURTURIN) MUTATIONS IN COMBINATION WITH RET MUTATIONS - A MODEL OF MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE, European journal of human genetics, 6, 1998, pp. 4049-4049

MUTATION OF THE RET LIGAND, NEURTURIN, SUPPORTS MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE

Authors: DORAY B SALOMON R AMIEL J PELET A TOURAINE R BILLAUD M ATTIE T BACHY B MUNNICH A LYONNET S

Citation: B. Doray et al., MUTATION OF THE RET LIGAND, NEURTURIN, SUPPORTS MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE, Human molecular genetics (Print), 7(9), 1998, pp. 1449-1452

MUTATION OF THE RET LIGAND, NEURTURIN, SUPPORTS MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE (VOL 7, PG 1449, 1998)

Authors: DORAY B SALOMON R AMIEL J PELET A TOURAINE R BILLAUD M ATTIE T BACHY B MUNNICH A LYONNET S

Citation: B. Doray et al., MUTATION OF THE RET LIGAND, NEURTURIN, SUPPORTS MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE (VOL 7, PG 1449, 1998), Human molecular genetics (Print), 7(11), 1998, pp. 1831-1831

NOONAN-SYNDROME - AN ENIGMA

Authors: LIMAL JM BONNET D LEBOUC Y LEHEUP B LYONNET S

Citation: Jm. Limal et al., NOONAN-SYNDROME - AN ENIGMA, Archives de pediatrie, 5(7), 1998, pp. 715-718

FROM CONGENITAL-MALFORMATIONS TO TUMORS I N CHILDREN

Authors: AMIEL J LACOMBE D ATTIE T MUNNICH A LYONNET S

Citation: J. Amiel et al., FROM CONGENITAL-MALFORMATIONS TO TUMORS I N CHILDREN, Archives de pediatrie, 5, 1998, pp. 88-89

PREVALENCE OF THE MICRODELETION 22Q11 IN NEWBORN-INFANTS WITH CONGENITAL CONOTRUNCAL CARDIAC ANOMALIES

Authors: ISERIN L DELONLAY P VIOT G SIDI D KACHANER J MUNNICH A LYONNET S VEKEMANS M BONNET D

Citation: L. Iserin et al., PREVALENCE OF THE MICRODELETION 22Q11 IN NEWBORN-INFANTS WITH CONGENITAL CONOTRUNCAL CARDIAC ANOMALIES, European journal of pediatrics, 157(11), 1998, pp. 881-884

PRESENTATION OF 6 CASES OF STUVE-WIEDEMANN-SYNDROME

Authors: CORMIERDAIRE V MUNNICH A LYONNET S RUSTIN P DELEZOIDE AL MAROTEAUX P LEMERRER M

Citation: V. Cormierdaire et al., PRESENTATION OF 6 CASES OF STUVE-WIEDEMANN-SYNDROME, Pediatric radiology, 28(10), 1998, pp. 776-780

BLUE-RED AND FUSCO-CERULEUS MACULES - EARLY CUTANEOUS SIGNS OF NEUROFIBROMATOSIS TYPE-I IN CHILDHOOD

Authors: VABRES P DELONLAY P AMIEL J LYONNET S MUNNICH A DEPROST Y

Citation: P. Vabres et al., BLUE-RED AND FUSCO-CERULEUS MACULES - EARLY CUTANEOUS SIGNS OF NEUROFIBROMATOSIS TYPE-I IN CHILDHOOD, Annales de dermatologie et de venereologie, 125(9), 1998, pp. 593-594

EBSTEIN ANOMALY ASSOCIATED WITH REARRANGEMENTS OF CHROMOSOMAL REGION 11Q

Authors: DELONLAYDEBENEY P DEBLOIS MC BONNET D AMIEL J ABADIE V PICQ M LYONNET S SIDI D MUNNICH A VEKEMANS M CORMIERDAIRE V

Citation: P. Delonlaydebeney et al., EBSTEIN ANOMALY ASSOCIATED WITH REARRANGEMENTS OF CHROMOSOMAL REGION 11Q, American journal of medical genetics, 80(2), 1998, pp. 157-159

CLINICAL HOMOGENEITY OF THE STUVE-WIEDEMANN-SYNDROME AND OVERLAP WITHTHE SCHWARTZ-JAMPEL-SYNDROME TYPE-2

Authors: CORMIERDAIRE V SUPERTIFURGA A MUNNICH A LYONNET S RUSTIN P DELEZOIDE AL DELONLAY P GIEDION A MAROTEAUX P LEMERRER M

Citation: V. Cormierdaire et al., CLINICAL HOMOGENEITY OF THE STUVE-WIEDEMANN-SYNDROME AND OVERLAP WITHTHE SCHWARTZ-JAMPEL-SYNDROME TYPE-2, American journal of medical genetics, 78(2), 1998, pp. 146-149

CHARGE SYNDROME - REPORT OF 47 CASES AND REVIEW

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

NOVEL RECURRENT NONSENSE MUTATION CAUSING NEUROFIBROMATOSIS TYPE-1 (NF1) IN A FAMILY SEGREGATING BOTH NF1 AND NOONAN-SYNDROME

Authors: BAHUAU M HOUDAYER C ASSOULINE B BLANCHETBARDON C LEMERRER M LYONNET S GIRAUD S RECAN D LAKHDAR H VIDAUD M VIDAUD D

Citation: M. Bahuau et al., NOVEL RECURRENT NONSENSE MUTATION CAUSING NEUROFIBROMATOSIS TYPE-1 (NF1) IN A FAMILY SEGREGATING BOTH NF1 AND NOONAN-SYNDROME, American journal of medical genetics, 75(3), 1998, pp. 265-272

VARIOUS MECHANISMS CAUSE RET-MEDIATED SIGNALING DEFECTS IN HIRSCHSPRUNGS-DISEASE

Authors: PELET A GENESTE O EDERY P PASINI A CHAPPUIS S ATTIE T MUNNICH A LENOIR G LYONNET S BILLAUD M

Citation: A. Pelet et al., VARIOUS MECHANISMS CAUSE RET-MEDIATED SIGNALING DEFECTS IN HIRSCHSPRUNGS-DISEASE, The Journal of clinical investigation, 101(6), 1998, pp. 1415-1423

WILMS-TUMOR AND GONADAL-DYSGENESIS IN A CHILD WITH THE 2Q37.1 DELETION SYNDROME

Authors: VIOTSZOBOSZLAI G AMIEL J DOZ F PRIEUR M COUTURIER J ZUCKER JN HENRY I MUNNICH A VEKEMANS M LYONNET S

Citation: G. Viotszoboszlai et al., WILMS-TUMOR AND GONADAL-DYSGENESIS IN A CHILD WITH THE 2Q37.1 DELETION SYNDROME, Clinical genetics, 53(4), 1998, pp. 278-280

MUTATIONS OF THE RET-GDNF SIGNALING PATHWAY IN ONDINES-CURSE

Authors: AMIEL J SALOMON R ATTIE T PELET A TRANG H MOKHTARI M GAULTIER C MUNNICH A LYONNET S

Citation: J. Amiel et al., MUTATIONS OF THE RET-GDNF SIGNALING PATHWAY IN ONDINES-CURSE, American journal of human genetics, 62(3), 1998, pp. 715-717

HOLT-ORAM SYNDROME IS CAUSED BY MUTATIONS IN TBX5, A MEMBER OF THE BRACHYURY (T) GENE FAMILY

Authors: LI QY NEWBURYECOB RA TERRETT JA WILSON DI CURTIS ARJ YI CH GEBUHR T BULLEN PJ ROBSON SC STRACHAN T BONNET D LYONNET S YOUNG ID RAEBURN JA BUCKLER AJ LAW DJ BROOK JD

Citation: Qy. Li et al., HOLT-ORAM SYNDROME IS CAUSED BY MUTATIONS IN TBX5, A MEMBER OF THE BRACHYURY (T) GENE FAMILY, Nature genetics, 15(1), 1997, pp. 21-29

ENDOTHELIN-3 GENE-MUTATIONS IN ISOLATED AND SYNDROMIC HIRSCHSPRUNG-DISEASE

Authors: BIDAUD C SALOMON R VANCAMP G PELET A ATTIE T ENG C BONDUELLE M AMIEL J NIHOULFEKETE C WILLEMS PJ MUNNICH A LYONNET S

Citation: C. Bidaud et al., ENDOTHELIN-3 GENE-MUTATIONS IN ISOLATED AND SYNDROMIC HIRSCHSPRUNG-DISEASE, European journal of human genetics, 5(4), 1997, pp. 247-251

MUTATIONS OF THE EDN3 GENE IN ISOLATED AND SYNDROMIC HIRSCHSPRUNGS-DISEASE

Authors: BIDAUD C SALOMON R EDERY P VANCAMP G PELET A BONDUELLE M NIHOULFEKETE C WILLEMS PJ MUNNICH A LYONNET S

Citation: C. Bidaud et al., MUTATIONS OF THE EDN3 GENE IN ISOLATED AND SYNDROMIC HIRSCHSPRUNGS-DISEASE, Gastroenterologie clinique et biologique, 21(8-9), 1997, pp. 548-554

GENETIC-HETEROGENEITY IN INTERATRIAL DEFE CT

Authors: CHESSA M AGGOUN Y BONHOEFFER P BUTERA G LYONNET S BONNET D

Citation: M. Chessa et al., GENETIC-HETEROGENEITY IN INTERATRIAL DEFE CT, Rivista italiana di pediatria, 23(5), 1997, pp. 889-892

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