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Results: 1-11 |
Results: 11
INTERCHROMOSOMAL AND INTRACHROMOSOMAL SUB-TELOMERIC REARRANGEMENTS ON4Q35 - IMPLICATIONS FOR FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)ETIOLOGY AND DIAGNOSIS
Authors: LEMMERS RJLF VANDERMAAREL SM VANDEUTEKOM JCT VANDERWIELEN MJR DEIDDA G DAUWERSE HG HEWITT J HOFKER M BAKKER E PADBERG GW FRANTS RR
Citation: Rjlf. Lemmers et al., INTERCHROMOSOMAL AND INTRACHROMOSOMAL SUB-TELOMERIC REARRANGEMENTS ON4Q35 - IMPLICATIONS FOR FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)ETIOLOGY AND DIAGNOSIS, Human molecular genetics (Print), 7(8), 1998, pp. 1207-1214
SEX INFLUENCES AND ANTICIPATION IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
Authors: PADBERG GW VOGELS OJM VANDERKOOI E VANDERMAAREL SM FRANTS RR
Citation: Gw. Padberg et al., SEX INFLUENCES AND ANTICIPATION IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, Neurology, 50(4), 1998, pp. 15005-15005
MORE INSIGHT IN THE GENETIC MECHANISMS UNDERLYING FACIOSCAPULOHUMERALMUSCULAR-DYSTROPHY
Authors: VANDERMAAREL SM LEMMERS RJL VANDEUTEKOM JCT BAKKER E VANDERWIELEN MJR BIK E HOFKER MH PADBERG GW FRANTS RR
Citation: Sm. Vandermaarel et al., MORE INSIGHT IN THE GENETIC MECHANISMS UNDERLYING FACIOSCAPULOHUMERALMUSCULAR-DYSTROPHY, American journal of human genetics, 61(4), 1997, pp. 277-277
CLONING AND CHARACTERIZATION OF DXS6673E, A CANDIDATE GENE FOR X-LINKED MENTAL-RETARDATION IN XQ13.1
Authors: VANDERMAAREL SM SCHOLTEN IHJM HUBER I PHILIPPE C SUIJKERBUIJK RF GILGENKRANTZ S KERE J CREMERS FPM ROPERS HH
Citation: Sm. Vandermaarel et al., CLONING AND CHARACTERIZATION OF DXS6673E, A CANDIDATE GENE FOR X-LINKED MENTAL-RETARDATION IN XQ13.1, Human molecular genetics, 5(7), 1996, pp. 887-897
YEAST ARTIFICIAL CHROMOSOME CLONING OF THE XQ13.3-Q21.31 REGION AND FINE MAPPING OF A DELETION ASSOCIATED WITH CHOROIDEREMIA AND NONSPECIFIC MENTAL-RETARDATION
Authors: VANDERMAAREL SM SCHOLTEN IHJM MAATKIEVIT JA HUBER I DEKOK YJM DEWIJS I VANDEPOL TJR VANBOKHOVEN H DENDUNNEN JT VANOMMEN GJB PHILIPPE C MONACO AP SMEETS HJM ROPERS HH CREMERS FPM
Citation: Sm. Vandermaarel et al., YEAST ARTIFICIAL CHROMOSOME CLONING OF THE XQ13.3-Q21.31 REGION AND FINE MAPPING OF A DELETION ASSOCIATED WITH CHOROIDEREMIA AND NONSPECIFIC MENTAL-RETARDATION, European journal of human genetics, 3(4), 1995, pp. 207-218
A DUPLICATION PARACENTRIC INVERSION ASSOCIATED WITH FAMILIAL X-LINKEDDEAFNESS (DFN3) SUGGESTS THE PRESENCE OF A REGULATORY ELEMENT MORE THAN 400 KB UPSTREAM OF THE POU3F4 GENE
Authors: DEKOK YJM MERKX GFM VANDERMAAREL SM HUBER I MALCOLM S ROPERS HH CREMERS FPM
Citation: Yjm. Dekok et al., A DUPLICATION PARACENTRIC INVERSION ASSOCIATED WITH FAMILIAL X-LINKEDDEAFNESS (DFN3) SUGGESTS THE PRESENCE OF A REGULATORY ELEMENT MORE THAN 400 KB UPSTREAM OF THE POU3F4 GENE, Human molecular genetics, 4(11), 1995, pp. 2145-2150
ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4
Authors: DEKOK YJM VANDERMAAREL SM BITNERGLINDZICZ M HUBER I MONACO AP MALCOLM S PEMBREY ME ROPERS HH CREMERS FPM
Citation: Yjm. Dekok et al., ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4, Science, 267(5198), 1995, pp. 685-688
X-LINKED MIXED DEAFNESS (DFN3) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGION ALLOWS THE IDENTIFICATION OF NOVEL MICRODELETIONS
Authors: HUBER I BITNERGLINDZICZ M DEKOK YJM VANDERMAAREL SM ISHIKAWABRUSH Y MONACO AP ROBINSON D MALCOLM S PEMBREY M BRUNNER HG CREMERS FPM ROPERS HH
Citation: I. Huber et al., X-LINKED MIXED DEAFNESS (DFN3) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGION ALLOWS THE IDENTIFICATION OF NOVEL MICRODELETIONS, Human molecular genetics, 3(7), 1994, pp. 1151-1154
RADIATION HYBRIDS FOR THE PROXIMAL LONG ARM OF THE X-CHROMOSOME AND THEIR USE IN THE DERIVATION OF AN ORDERED SET OF COSMID MARKERS FROM A DEFINED SUBREGION IN PROXIMAL XQ13.1
Authors: ROHME D SIDEN T VANDERMAAREL SM CREMERS FPM TANTRAVAHI U MARINONI JC ROPERS HH SCHWARTZ CE
Citation: D. Rohme et al., RADIATION HYBRIDS FOR THE PROXIMAL LONG ARM OF THE X-CHROMOSOME AND THEIR USE IN THE DERIVATION OF AN ORDERED SET OF COSMID MARKERS FROM A DEFINED SUBREGION IN PROXIMAL XQ13.1, Somatic cell and molecular genetics, 20(1), 1994, pp. 1-10
CLONING OF A CANDIDATE GENE FOR X-LINKED MENTAL-RETARDATION IN XQ13.1
Authors: VANDERMAAREL SM ROHME D BACH I GILGENKRANZ S WEGHUIS DO KERE J CREMERS FPM ROPERS HH
Citation: Sm. Vandermaarel et al., CLONING OF A CANDIDATE GENE FOR X-LINKED MENTAL-RETARDATION IN XQ13.1, Cytogenetics and cell genetics, 67(4), 1994, pp. 349-349
LOCALIZATION OF GENES FOR NONSPECIFIC AND SYNDROMAL X-LINKED MENTAL-RETARDATION
Authors: KREMER H VANDENHELM B SMITS APT HAMEL BCJ ARTS WF WESBYVANSWAAY E OOSTRA BA VANDERMAAREL SM MARIMAN ECM ROPERS HH
Citation: H. Kremer et al., LOCALIZATION OF GENES FOR NONSPECIFIC AND SYNDROMAL X-LINKED MENTAL-RETARDATION, American journal of human genetics, 53(3), 1993, pp. 1025-1025
Risultati: 1-11 |