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Results: 1-25 |
Results: 25
ANENCEPHALY AND FACIOCRANIOSCHISIS - EVIDENCE OF COMPLETE FAILURE OF CLOSURE 3 OF THE NEURAL-TUBE IN HUMANS
Authors: URIOSTE M ROSA A
Citation: M. Urioste et A. Rosa, ANENCEPHALY AND FACIOCRANIOSCHISIS - EVIDENCE OF COMPLETE FAILURE OF CLOSURE 3 OF THE NEURAL-TUBE IN HUMANS, American journal of medical genetics, 75(1), 1998, pp. 4-6
ACHONDROPLASIA - MOLECULAR STUDY OF 28 PA TIENTS
Authors: CLIMENT C LORDASANCHEZ I URIOSTE M GAIRI JM RODRIGUEZ JI RUBIO V
Citation: C. Climent et al., ACHONDROPLASIA - MOLECULAR STUDY OF 28 PA TIENTS, Medicina Clinica, 110(13), 1998, pp. 492-494
EPIDEMIOLOGIC ANALYSIS OF THE SCHISIS ASSOCIATION IN THE SPANISH REGISTRY OF CONGENITAL-MALFORMATIONS
Authors: MARTINEZFRIAS ML FRIAS JL BERMEJO E RODRIGUEZPINILLA E URIOSTE M
Citation: Ml. Martinezfrias et al., EPIDEMIOLOGIC ANALYSIS OF THE SCHISIS ASSOCIATION IN THE SPANISH REGISTRY OF CONGENITAL-MALFORMATIONS, American journal of medical genetics, 70(1), 1997, pp. 16-23
PROXIMAL PARTIAL 5P TRISOMY RESULTING FROM A MATERNAL (19-5) INSERTION
Authors: LORDASANCHEZ I URIOSTE M VILLA A CARRASCOSA MD VAZQUEZ MS MARTINEZ A MARTINEZFRIAS ML
Citation: I. Lordasanchez et al., PROXIMAL PARTIAL 5P TRISOMY RESULTING FROM A MATERNAL (19-5) INSERTION, American journal of medical genetics, 68(4), 1997, pp. 476-480
TETRASOMY 5P MOSAICISM DUE TO AN EXTRA I(5P) IN A SEVERELY AFFECTED GIRL
Authors: LORDASANCHEZ I VILLA A URIOSTE M BERNAL E JASO E GARCIA A MARTINEZFRIAS ML
Citation: I. Lordasanchez et al., TETRASOMY 5P MOSAICISM DUE TO AN EXTRA I(5P) IN A SEVERELY AFFECTED GIRL, American journal of medical genetics, 68(4), 1997, pp. 481-484
GIANT-CELL CHONDRODYSPLASIA IN A MALE INFANT WITH CLINICAL AND RADIOLOGICAL FINDINGS RESEMBLING THE PIEPKORN TYPE OF LETHAL OSTEOCHONDRODYSPLASIA
Authors: URIOSTE M RODRIGUEZ JI BOFARULL JM TORAN N FERRER C VILLA A
Citation: M. Urioste et al., GIANT-CELL CHONDRODYSPLASIA IN A MALE INFANT WITH CLINICAL AND RADIOLOGICAL FINDINGS RESEMBLING THE PIEPKORN TYPE OF LETHAL OSTEOCHONDRODYSPLASIA, American journal of medical genetics, 68(3), 1997, pp. 342-346
SEVERE CONGENITAL LIMB DEFICIENCIES, VERTEBRAL HYPERSEGMENTATION, ABSENT THYMUS AND MIRROR POLYDACTYLY - A DEFECT EXPRESSION OF A DEVELOPMENTAL CONTROL GENE
Authors: URIOSTE M LORDASANCHEZ I BLANCO M BURON E APARICIO P MARTINEZFRIAS ML
Citation: M. Urioste et al., SEVERE CONGENITAL LIMB DEFICIENCIES, VERTEBRAL HYPERSEGMENTATION, ABSENT THYMUS AND MIRROR POLYDACTYLY - A DEFECT EXPRESSION OF A DEVELOPMENTAL CONTROL GENE, Human genetics, 97(2), 1996, pp. 214-217
EPIDEMIOLOGIC ANALYSIS OF MULTISITE CLOSURE FAILURE OF NEURAL-TUBE INHUMANS
Authors: MARTINEZFRIAS ML URIOSTE M BERMEJO E SANCHIS A RODRIQUEZPINILLA E
Citation: Ml. Martinezfrias et al., EPIDEMIOLOGIC ANALYSIS OF MULTISITE CLOSURE FAILURE OF NEURAL-TUBE INHUMANS, American journal of medical genetics, 66(1), 1996, pp. 64-68
CLINICAL EPIDEMIOLOGIC ANALYSIS OF CONGENITAL-ANOMALIES ASSOCIATED WITH DIAPHRAGMATIC-HERNIA
Authors: MARTINEZFRIAS ML PRIETO L URIOSTE M BERMEJO E
Citation: Ml. Martinezfrias et al., CLINICAL EPIDEMIOLOGIC ANALYSIS OF CONGENITAL-ANOMALIES ASSOCIATED WITH DIAPHRAGMATIC-HERNIA, American journal of medical genetics, 62(1), 1996, pp. 71-76
A NEW CASE OF FIBROCHONDROGENESIS FROM SPAIN
Authors: MARTINEZFRIAS ML GARCIA A CUEVAS J RODRIGUEZ JI URIOSTE M
Citation: Ml. Martinezfrias et al., A NEW CASE OF FIBROCHONDROGENESIS FROM SPAIN, Journal of Medical Genetics, 33(5), 1996, pp. 429-431
DISTAL DELETION OF CHROMOSOME-13 IN A CHILD WITH THE OPITZ GBBB SYNDROME
Authors: URIOSTE M ARROYO I VILLA A LORDASANCHEZ I BARRIO R LOPEZCUESTA MJ RUEDA J
Citation: M. Urioste et al., DISTAL DELETION OF CHROMOSOME-13 IN A CHILD WITH THE OPITZ GBBB SYNDROME, American journal of medical genetics, 59(1), 1995, pp. 114-122
PRIMARY MIDLINE DEVELOPMENTAL FIELD .2. CLINICAL EPIDEMIOLOGIC ANALYSIS OF ALTERATION OF LATERALITY (NORMAL BODY SYMMETRY AND ASYMMETRY)
Authors: MARTINEZFRIAS ML URIOSTE M BERMEJO E RODRIGUEZPINILLA E FELIX V PAISAN L MARTINEZ S EGUES J GOMEZ F APARICIO P CUCALON F ARROYO A MEIPP C VAZQUEZ S RODRIGUEZ JI ROSA A GARCIA J JIMENEZ N MORO C
Citation: Ml. Martinezfrias et al., PRIMARY MIDLINE DEVELOPMENTAL FIELD .2. CLINICAL EPIDEMIOLOGIC ANALYSIS OF ALTERATION OF LATERALITY (NORMAL BODY SYMMETRY AND ASYMMETRY), American journal of medical genetics, 56(4), 1995, pp. 382-388
DE-NOVO INTERSTITIAL DELETION Q16.2Q21 ON CHROMOSOME-6
Authors: VILLA A URIOSTE M BOFARULL JM MARTINEZFRIAS ML
Citation: A. Villa et al., DE-NOVO INTERSTITIAL DELETION Q16.2Q21 ON CHROMOSOME-6, American journal of medical genetics, 55(3), 1995, pp. 379-383
PERICENTRIC INVERSIONS OF CHROMOSOME-4 - REPORT OF A NEW FAMILY AND REVIEW OF THE LITERATURE
Authors: VILLA A URIOSTE M CARRASCOSA MC VAZQUEZ S MARTINEZ A MARTINEZFRIAS ML
Citation: A. Villa et al., PERICENTRIC INVERSIONS OF CHROMOSOME-4 - REPORT OF A NEW FAMILY AND REVIEW OF THE LITERATURE, Clinical genetics, 48(5), 1995, pp. 255-260
CHROMOSOME 4P16 AND OSTEOCHONDROPLASIAS
Authors: URIOSTE M MARTINEZFRIAS ML BERMEJO E VILLA A JIMENEZ N ROMERO D NIETO C
Citation: M. Urioste et al., CHROMOSOME 4P16 AND OSTEOCHONDROPLASIAS, Nature genetics, 6(4), 1994, pp. 334-334
ECTRODACTYLY IN TRISOMY-13-SYNDROME
Authors: URIOSTE M MARTINEZFRIAS ML APARICIO P
Citation: M. Urioste et al., ECTRODACTYLY IN TRISOMY-13-SYNDROME, American journal of medical genetics, 53(4), 1994, pp. 390-392
DK-PHOCOMELIA SYNDROME IN A CHILD WITH A LONG FOLLOW-UP
Authors: URIOSTE M PAISAN L MARTINEZFRIAS ML
Citation: M. Urioste et al., DK-PHOCOMELIA SYNDROME IN A CHILD WITH A LONG FOLLOW-UP, American journal of medical genetics, 52(3), 1994, pp. 269-271
SEVERE SPONDYLOCOSTAL DYSOSTOSIS ASSOCIATED WITH OTHER CONGENITAL-ANOMALIES - A CLINICAL EPIDEMIOLOGIC ANALYSIS AND DESCRIPTION OF 10 CASESFROM THE SPANISH REGISTRY/
Authors: MARTINEZFRIAS ML BERMEJO E PAISAN L MARTIN M EGUES J LOPEZ JA MARTINEZ S ORBEA C CUCALON F GAIRI JM URIOSTE M DELACRUZ MA
Citation: Ml. Martinezfrias et al., SEVERE SPONDYLOCOSTAL DYSOSTOSIS ASSOCIATED WITH OTHER CONGENITAL-ANOMALIES - A CLINICAL EPIDEMIOLOGIC ANALYSIS AND DESCRIPTION OF 10 CASESFROM THE SPANISH REGISTRY/, American journal of medical genetics, 51(3), 1994, pp. 203-212
NEW SYNDROME - SCLEROCORNEA, HYPERTELORISM, SYNDACTYLY, AND AMBIGUOUSGENITALIA
Authors: MARTINEZFRIAS ML BERMEJO E OTERO TS URIOSTE M MORENA V CRUZ E
Citation: Ml. Martinezfrias et al., NEW SYNDROME - SCLEROCORNEA, HYPERTELORISM, SYNDACTYLY, AND AMBIGUOUSGENITALIA, American journal of medical genetics, 49(2), 1994, pp. 195-197
SEGMENTATION ANOMALIES OF THE VERTEBRAS AND RIBS - A DEVELOPMENTAL FIELD DEFECT - EPIDEMIOLOGIC EVIDENCE
Authors: MARTINEZFRIAS ML URIOSTE M
Citation: Ml. Martinezfrias et M. Urioste, SEGMENTATION ANOMALIES OF THE VERTEBRAS AND RIBS - A DEVELOPMENTAL FIELD DEFECT - EPIDEMIOLOGIC EVIDENCE, American journal of medical genetics, 49(1), 1994, pp. 36-44
DYNAMIC MOSAICISM INVOLVING AN UNSTABLE SUPERNUMERARY DER(22) CHROMOSOME IN CAT EYE SYNDROME
Authors: URIOSTE M VISEDO G SANCHIS A SENTIS C VILLA A LUDENA P HORTIGUELA JL MARTINEZFRIAS ML FERNANDEZPIQUERAS J
Citation: M. Urioste et al., DYNAMIC MOSAICISM INVOLVING AN UNSTABLE SUPERNUMERARY DER(22) CHROMOSOME IN CAT EYE SYNDROME, American journal of medical genetics, 49(1), 1994, pp. 77-82
SHORT RIB-POLYDACTYLY SYNDROME AND PERICENTRIC-INVERSION OF CHROMOSOME-4
Authors: URIOSTE M MARTINEZFRIAS ML BERMEJO E JIMENEZ N ROMERO D NIETO C VILLA A
Citation: M. Urioste et al., SHORT RIB-POLYDACTYLY SYNDROME AND PERICENTRIC-INVERSION OF CHROMOSOME-4, American journal of medical genetics, 49(1), 1994, pp. 94-97
SHORT RIB-POLYDACTYLY SYNDROME (SRPS) WITH ANENCEPHALY AND OTHER CENTRAL-NERVOUS-SYSTEM ANOMALIES - A NEW-TYPE OF SRPS OR A MORE SEVERE EXPRESSION OF A KNOWN SRPS ENTITY
Authors: MARTINEZFRIAS ML BERMEJO E URIOSTE M EGUES J SOLER JAL
Citation: Ml. Martinezfrias et al., SHORT RIB-POLYDACTYLY SYNDROME (SRPS) WITH ANENCEPHALY AND OTHER CENTRAL-NERVOUS-SYSTEM ANOMALIES - A NEW-TYPE OF SRPS OR A MORE SEVERE EXPRESSION OF A KNOWN SRPS ENTITY, American journal of medical genetics, 47(5), 1993, pp. 782-787
PERSISTENCE OF MULLERIAN DERIVATIVES, LYMPHANGIECTASIS, HEPATIC-FAILURE, POSTAXIAL POLYDACTYLY, RENAL AND CRANIOFACIAL ANOMALIES
Authors: URIOSTE M RODRIGUEZ JI BARCIA JM MARTIN M ESCRIBA R PARDO M CAMINO J MARTINEZFRIAS ML
Citation: M. Urioste et al., PERSISTENCE OF MULLERIAN DERIVATIVES, LYMPHANGIECTASIS, HEPATIC-FAILURE, POSTAXIAL POLYDACTYLY, RENAL AND CRANIOFACIAL ANOMALIES, American journal of medical genetics, 47(4), 1993, pp. 494-503
LETHAL SHORT RIB-POLYDACTYLY SYNDROMES - FURTHER EVIDENCE FOR THEIR OVERLAPPING IN A CONTINUOUS-SPECTRUM
Authors: MARTINEZFRIAS ML BERMEJO E URIOSTE M HUERTAS H ARROYO I
Citation: Ml. Martinezfrias et al., LETHAL SHORT RIB-POLYDACTYLY SYNDROMES - FURTHER EVIDENCE FOR THEIR OVERLAPPING IN A CONTINUOUS-SPECTRUM, Journal of Medical Genetics, 30(11), 1993, pp. 937-941
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