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Results: 1-25 | 26-35
Results: 1-25/35
A NOVEL MUTATION (C201R) IN THE TRANSMEMBRANE DOMAIN OF CONNEXIN-32 IN SEVERE X-LINKED CHARCOT-MARIE-TOOTH DISEASE
Authors: SILLEN A ANNEREN G DAHL N
Citation: A. Sillen et al., A NOVEL MUTATION (C201R) IN THE TRANSMEMBRANE DOMAIN OF CONNEXIN-32 IN SEVERE X-LINKED CHARCOT-MARIE-TOOTH DISEASE, Human mutation, 1998, pp. 8-9
ORIGIN OF NONDISJUNCTION IN TRISOMY-8 AND TRISOMY-8 MOSAICISM
Authors: KARADIMA G BUGGE M NICOLAIDIS P VASSILOPOULOS D AVRAMOPOULOS D GRIGORIADOU M ALBRECHT B PASSARGE E ANNEREN G BLENNOW E CLAUSEN N GALLAVOUMVOURAKI A TSEZOU A KITSIOUTZELI S HAHNEMANN JM HERTZ JM HOUGE G KUKLIK M MACEK M LACOMBE D MILLER K MONCLA A PAJARES IL PATSALIS PC PRIEUR M VEKEMANS M VONBEUST G BRONDUMNIELSEN K PETERSEN MB
Citation: G. Karadima et al., ORIGIN OF NONDISJUNCTION IN TRISOMY-8 AND TRISOMY-8 MOSAICISM, European journal of human genetics, 6(5), 1998, pp. 432-438
HYPERVARIABLE ALLELIC EXPRESSION PATTERNS OF THE IMPRINTED IGF2 GENE IN TUMOR-CELLS
Authors: HE LM CUI HM WALSH C MATTSSON R LIN WL ANNEREN G PFEIFEROHLSSON S OHLSSON R
Citation: Lm. He et al., HYPERVARIABLE ALLELIC EXPRESSION PATTERNS OF THE IMPRINTED IGF2 GENE IN TUMOR-CELLS, Oncogene, 16(1), 1998, pp. 113-119
DIFFERENTIAL EFFECT OF SELENIUM SUPPLEMENTATION ON IMMUNOGLOBULIN LEVELS IN DOWNS-SYNDROME (VOL 86, PG 1385, 1997)
Authors: MAGNUSSON CGM NORDVALL SL ANNEREN G
Citation: Cgm. Magnusson et al., DIFFERENTIAL EFFECT OF SELENIUM SUPPLEMENTATION ON IMMUNOGLOBULIN LEVELS IN DOWNS-SYNDROME (VOL 86, PG 1385, 1997), Acta paediatrica, 87(4), 1998, pp. 484-484
BOY WITH AN INTERSTITIAL 1Q (Q31Q41) DUPLICATION CONFIRMED BY FLUORESCENT IN-SITU HYBRIDIZATION
Authors: SILLEN A WADELIUS C ANNEREN G
Citation: A. Sillen et al., BOY WITH AN INTERSTITIAL 1Q (Q31Q41) DUPLICATION CONFIRMED BY FLUORESCENT IN-SITU HYBRIDIZATION, American journal of medical genetics, 80(2), 1998, pp. 163-168
LETHAL AUTOSOMAL RECESSIVE SYNDROME WITH INTRAUTERINE GROWTH-RETARDATION, INTRAHEPATIC AND EXTRAHEPATIC BILIARY ATRESIA, AND ESOPHAGEAL ANDDUODENAL ATRESIA
Authors: ANNEREN G MEURLING S LILJA H WALLANDER J VONDOBELN U
Citation: G. Anneren et al., LETHAL AUTOSOMAL RECESSIVE SYNDROME WITH INTRAUTERINE GROWTH-RETARDATION, INTRAHEPATIC AND EXTRAHEPATIC BILIARY ATRESIA, AND ESOPHAGEAL ANDDUODENAL ATRESIA, American journal of medical genetics, 78(3), 1998, pp. 306-307
THYROID-DYSFUNCTION IN DOWNS-SYNDROME - RELATION TO AGE AND THYROID AUTOIMMUNITY
Authors: KARLSSON B GUSTAFSSON J HEDOV G IVARSSON SA ANNEREN G
Citation: B. Karlsson et al., THYROID-DYSFUNCTION IN DOWNS-SYNDROME - RELATION TO AGE AND THYROID AUTOIMMUNITY, Archives of Disease in Childhood, 79(3), 1998, pp. 242-245
DIFFERENTIAL EFFECT OF SELENIUM SUPPLEMENTATION ON IMMUNOGLOBULIN LEVELS IN DOWNS-SYNDROME
Authors: MAGNUSSON CGM NORDVALL SL ANNEREN G
Citation: Cgm. Magnusson et al., DIFFERENTIAL EFFECT OF SELENIUM SUPPLEMENTATION ON IMMUNOGLOBULIN LEVELS IN DOWNS-SYNDROME, Acta paediatrica, 86(12), 1997, pp. 1385-1386
THE IMPACT OF THYROID AUTOIMMUNITY IN CHILDREN AND ADOLESCENTS WITH DOWN-SYNDROME
Authors: IVARSSON SA ERICSSON UB GUSTAFSSON J FORSLUND M VEGFORS P ANNEREN G
Citation: Sa. Ivarsson et al., THE IMPACT OF THYROID AUTOIMMUNITY IN CHILDREN AND ADOLESCENTS WITH DOWN-SYNDROME, Acta paediatrica, 86(10), 1997, pp. 1065-1067
GENETIC AND LINKAGE ANALYSIS OF FAMILIAL CONGENITAL HYPOTHYROIDISM - EXCLUSION OF LINKAGE TO THE TSH RECEPTOR GENE
Authors: AHLBOM BE YAQOOB M LARSSON A ILICKI A ANNEREN G WADELIUS C
Citation: Be. Ahlbom et al., GENETIC AND LINKAGE ANALYSIS OF FAMILIAL CONGENITAL HYPOTHYROIDISM - EXCLUSION OF LINKAGE TO THE TSH RECEPTOR GENE, Human genetics, 99(2), 1997, pp. 186-190
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC) - EVIDENCE FOR GENETIC-HETEROGENEITY BY EXCLUSION OF LINKAGE TO CHROMOSOME 18Q21-Q22
Authors: ARNELL H NEMETH A ANNEREN G DAHL N
Citation: H. Arnell et al., PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC) - EVIDENCE FOR GENETIC-HETEROGENEITY BY EXCLUSION OF LINKAGE TO CHROMOSOME 18Q21-Q22, Human genetics, 100(3-4), 1997, pp. 378-381
NONDISJUNCTION STUDIES IN TRISOMY-8
Authors: KARADIMA G AVRAMOPOULOS D GRIGORIADOU M PETERSEN MB ALBRECHT B ANNEREN G BLENNOW E BRONDUMNIELSEN K BUGGE M CLAUSEN N GALLAVOUMVOURAKI A HAHNEMANN JM HERTZ JM KITSIOUTZELI S LACOMBE D MILLER K MONCLA A PAJARES IL PASSARGE E PATSALIS PC PRIEUR M TSEZOU A VASSILOPOULOS D VEKEMANS M VONBEUST G
Citation: G. Karadima et al., NONDISJUNCTION STUDIES IN TRISOMY-8, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 105-105
THYROID-FUNCTION IN CHILDREN AND ADOLESCENTS WITH DOWN-SYNDROME IN RELATION TO AGE, SEX, GROWTH VELOCITY AND THYROID AUTOANTIBODIES
Authors: ANNEREN G KARLSSON BK HEDOW G GUSTAFSSON J IVARSSON SA
Citation: G. Anneren et al., THYROID-FUNCTION IN CHILDREN AND ADOLESCENTS WITH DOWN-SYNDROME IN RELATION TO AGE, SEX, GROWTH VELOCITY AND THYROID AUTOANTIBODIES, Cytogenetics and cell genetics, 77, 1997, pp. 18-18
MORTALITY IN RELATION TO CONGENITAL-MALFORMATIONS OF CHILDREN WITH DOWN-SYNDROME BORN 1973-1980 IN THE NORTHERN PART OF SWEDEN
Authors: FRID C DROTT P RASMUSSEN F ANNEREN G
Citation: C. Frid et al., MORTALITY IN RELATION TO CONGENITAL-MALFORMATIONS OF CHILDREN WITH DOWN-SYNDROME BORN 1973-1980 IN THE NORTHERN PART OF SWEDEN, Cytogenetics and cell genetics, 77, 1997, pp. 20-20
THE GENETICS OF PRIMARY NOCTURNAL ENURESIS - INHERITANCE AND SUGGESTION OF A 2ND MAJOR GENE ON CHROMOSOME 12Q
Authors: ARNELL H HJALMAS K JAGERVALL M LACKGREN G STENBERG A BENGTSSON B WASSEN C EMAHAZION T ANNEREN G PETTERSSON U SUNDVALL M DAHL N
Citation: H. Arnell et al., THE GENETICS OF PRIMARY NOCTURNAL ENURESIS - INHERITANCE AND SUGGESTION OF A 2ND MAJOR GENE ON CHROMOSOME 12Q, Journal of Medical Genetics, 34(5), 1997, pp. 360-365
ORIGIN OF NONDISJUNCTION IN TRISOMY-8 AND TRISOMY-8 MOSAICISM
Authors: KARADIMA G BUGGE M NICOLAIDIS P VASSILOPOULOS D VONBEUST G PAJARES IL ALBRECHT B ANNEREN G AVRAMOPOULOS D BLENNOW E BRONDUMNIELSEN K CLAUSEN N GALLAVOUMVOURAKI A GRIGORIADOU M HAHNEMANN JM HERTZ JM KITSIOUTZELI S LACOMBE D MILLER K MONCLA A PASSARGE E PATSALIS PC PRIEUR M TSEZOU A VEKEMANS M PETERSEN MB
Citation: G. Karadima et al., ORIGIN OF NONDISJUNCTION IN TRISOMY-8 AND TRISOMY-8 MOSAICISM, American journal of human genetics, 61(4), 1997, pp. 732-732
IDENTIFICATION AND ANALYSIS OF MUTATIONS IN THE WILSON-DISEASE GENE (ATP7B) - POPULATION FREQUENCIES, GENOTYPE-PHENOTYPE CORRELATION, AND FUNCTIONAL ANALYSES
Authors: SHAH AB CHERNOV I ZHANG HT ROSS BM DAS K LUTSENKO S PARANO E PAVONE L EVGRAFOV O IVANOVASMOLENSKAYA IA ANNEREN G WESTERMARK K URRUTIA FH PENCHASZADEH GK STERNLIEB I SCHEINBERG IH GILLIAM TC PETRUKHIN K
Citation: Ab. Shah et al., IDENTIFICATION AND ANALYSIS OF MUTATIONS IN THE WILSON-DISEASE GENE (ATP7B) - POPULATION FREQUENCIES, GENOTYPE-PHENOTYPE CORRELATION, AND FUNCTIONAL ANALYSES, American journal of human genetics, 61(2), 1997, pp. 317-328
GROWTH AND PUBERTAL DEVELOPMENT IN DOWN-SYNDROME
Authors: ARNELL H GUSTAFSSON J IVARSSON SA ANNEREN G
Citation: H. Arnell et al., GROWTH AND PUBERTAL DEVELOPMENT IN DOWN-SYNDROME, Acta paediatrica, 85(9), 1996, pp. 1102-1106
A NEW QUANTITATIVE SOLUTION HYBRIDIZATION-RNASE PROTECTION ASSAY FOR APP AND APLP2 MESSENGER-RNA
Authors: JOHNSTON JA NORGREN S ANNEREN G COWBURN RF LANNFELT L
Citation: Ja. Johnston et al., A NEW QUANTITATIVE SOLUTION HYBRIDIZATION-RNASE PROTECTION ASSAY FOR APP AND APLP2 MESSENGER-RNA, Molecular brain research, 43(1-2), 1996, pp. 77-84
DELETION OF CHROMOSOME-21 IN A GIRL WITH CONGENITAL HYPOTHYROIDISM AND MILD MENTAL-RETARDATION
Authors: AHLBOM BE SIDENVALL R ANNEREN G
Citation: Be. Ahlbom et al., DELETION OF CHROMOSOME-21 IN A GIRL WITH CONGENITAL HYPOTHYROIDISM AND MILD MENTAL-RETARDATION, American journal of medical genetics, 64(3), 1996, pp. 501-505
MOLECULAR ANALYSIS OF CHROMOSOME-21 IN A PATIENT WITH A PHENOTYPE OF DOWN-SYNDROME AND APPARENTLY NORMAL KARYOTYPE
Authors: AHLBOM BE GOETZ P KORENBERG JR PETTERSSON U SEEMANOVA E WADELIUS C ZECH L ANNEREN G
Citation: Be. Ahlbom et al., MOLECULAR ANALYSIS OF CHROMOSOME-21 IN A PATIENT WITH A PHENOTYPE OF DOWN-SYNDROME AND APPARENTLY NORMAL KARYOTYPE, American journal of medical genetics, 63(4), 1996, pp. 566-572
GUIDELINES FOR OPTIMAL MEDICAL-CARE OF PERSONS WITH DOWN-SYNDROME
Authors: PUESCHEL SM ANNEREN G DURLACH R FLORES J SUSTROVA M VERMA IC
Citation: Sm. Pueschel et al., GUIDELINES FOR OPTIMAL MEDICAL-CARE OF PERSONS WITH DOWN-SYNDROME, Acta paediatrica, 84(7), 1995, pp. 823-827
THYROID ANTIBODIES ARE NOT A RISK FACTOR FOR PREGNANCIES WITH DOWN-SYNDROME
Authors: GUSTAFSSON J ANNEREN G ERICSSON UB SVANBERG L IVARSSON SA
Citation: J. Gustafsson et al., THYROID ANTIBODIES ARE NOT A RISK FACTOR FOR PREGNANCIES WITH DOWN-SYNDROME, Prenatal diagnosis, 15(5), 1995, pp. 451-454
ASPERGER SYNDROME IN A BOY WITH A BALANCED DE-NOVO TRANSLOCATION - T(17-19)(P13.3-P11)
Authors: ANNEREN G DAHL N UDDENFELDT U JANOLS LO
Citation: G. Anneren et al., ASPERGER SYNDROME IN A BOY WITH A BALANCED DE-NOVO TRANSLOCATION - T(17-19)(P13.3-P11), American journal of medical genetics, 56(3), 1995, pp. 330-331
NOONAN SYNDROME WITH CAFE-AU-LAIT SPOTS AND MULTIPLE LENTIGINES SYNDROME ARE NOT LINKED TO THE NEUROFIBROMATOSIS TYPE-1 LOCUS
Authors: AHLBOM BE DAHL N ZETTERQVIST P ANNEREN G
Citation: Be. Ahlbom et al., NOONAN SYNDROME WITH CAFE-AU-LAIT SPOTS AND MULTIPLE LENTIGINES SYNDROME ARE NOT LINKED TO THE NEUROFIBROMATOSIS TYPE-1 LOCUS, Clinical genetics, 48(2), 1995, pp. 85-89
Risultati: 1-25 | 26-35