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Results: 1-11 |
Results: 11
NEUROLOGICAL FEATURES OF 18Q- SYNDROME - A PROSPECTIVE ANALYSIS
Authors: GAY CT MULLER S CODY JD HARDIES LJ GHIDONI PD KAYE CI LEACH RJ
Citation: Ct. Gay et al., NEUROLOGICAL FEATURES OF 18Q- SYNDROME - A PROSPECTIVE ANALYSIS, Annals of neurology, 44(3), 1998, pp. 27-27
MAGNETIC-RESONANCE-IMAGING DEMONSTRATES INCOMPLETE MYELINATION IN 18Q- SYNDROME - EVIDENCE FOR MYELIN BASIC-PROTEIN HAPLOINSUFFICIENCY
Authors: GAY CT HARDIES LJ RAUCH RA LANCASTER JL PLAETKE R DUPONT BR CODY JD CORNELL JE HERNDON RC GHIDONI PD SCHIFF JM KAYE CI LEACH RJ FOX PT
Citation: Ct. Gay et al., MAGNETIC-RESONANCE-IMAGING DEMONSTRATES INCOMPLETE MYELINATION IN 18Q- SYNDROME - EVIDENCE FOR MYELIN BASIC-PROTEIN HAPLOINSUFFICIENCY, American journal of medical genetics, 74(4), 1997, pp. 422-431
PREFERENTIAL LOSS OF THE PATERNAL ALLELES IN THE 18Q- SYNDROME
Authors: CODY JD PIERCE JF BRKANAC Z PLAETKE R GHIDONI PD KAYE CI LEACH RJ
Citation: Jd. Cody et al., PREFERENTIAL LOSS OF THE PATERNAL ALLELES IN THE 18Q- SYNDROME, American journal of medical genetics, 69(3), 1997, pp. 280-286
GROWTH-HORMONE DEFICIENCY ASSOCIATED IN THE 18Q DELETION SYNDROME
Authors: GHIDONI PD HALE DE CODY JD GAY CT THOMPSON NM MCCLURE EB DANNEY MM LEACH RJ KAYE CI
Citation: Pd. Ghidoni et al., GROWTH-HORMONE DEFICIENCY ASSOCIATED IN THE 18Q DELETION SYNDROME, American journal of medical genetics, 69(1), 1997, pp. 7-12
SHORT-LIMB DWARFISM AND HYPERTROPHIC CARDIOMYOPATHY IN A PATIENT WITHPATERNAL ISODISOMY-14 - 45,XY,IDIC(14)(P11)
Authors: WALTER CA SHAFFER LG KAYE CI HUFF RW GHIDONI PD MCCASKILL C MCFARLAND MB MOORE CM
Citation: Ca. Walter et al., SHORT-LIMB DWARFISM AND HYPERTROPHIC CARDIOMYOPATHY IN A PATIENT WITHPATERNAL ISODISOMY-14 - 45,XY,IDIC(14)(P11), American journal of medical genetics, 65(4), 1996, pp. 259-265
MAGNETIC-RESONANCE-IMAGING RELAXOMETRY OF DELAYED MYELINATION IN THE 18Q- SYNDROME - CORRELATION WITH MYELIN BASIC-PROTEIN GENOTYPE
Authors: GAY CT RAUCH RA LANCASTER JL PLAETKE R DUPONT BR CODY JD HARDIES LJ HERNDON RC GHIDONI PD SCHIFF JM KAYE CI LEACH RJ FOX PT
Citation: Ct. Gay et al., MAGNETIC-RESONANCE-IMAGING RELAXOMETRY OF DELAYED MYELINATION IN THE 18Q- SYNDROME - CORRELATION WITH MYELIN BASIC-PROTEIN GENOTYPE, Annals of neurology, 38(3), 1995, pp. 520-520
GROWTH FAILURE AND GROWTH-HORMONE DEFICIENCY IN 18Q-SYNDROME
Authors: HALE DE GHIDONI PD KAYE CI CODY JD GALBREATH DS LEACH RJ GAY CT DANNEY MM
Citation: De. Hale et al., GROWTH FAILURE AND GROWTH-HORMONE DEFICIENCY IN 18Q-SYNDROME, Pediatric research, 37(4), 1995, pp. 90-90
COGNITIVE-BEHAVIORAL PHENOTYPE IN 18Q- SYNDROME
Authors: THOMPSON NM MCCLURE EB GHIDONI PD GALBREATH DS CODV JD SLOAN TB GAY CT LEACH RJ KAYE CI
Citation: Nm. Thompson et al., COGNITIVE-BEHAVIORAL PHENOTYPE IN 18Q- SYNDROME, Pediatric research, 37(4), 1995, pp. 153-153
PHENOTYPIC ANALYSIS OF 18Q- PATIENTS
Authors: GHIDONI PD CODY JD GALBREATH D PLAETKE R HALE D SLOAN T GAY CT RAUCH R LEACH RJ KAYE CE
Citation: Pd. Ghidoni et al., PHENOTYPIC ANALYSIS OF 18Q- PATIENTS, American journal of human genetics, 57(4), 1995, pp. 493-493
PARTIAL PATERNAL ISODISOMY-14 - EVIDENCE FOR A MITOTIC ORIGIN OF A ROBERTSONIAN TRANSLOCATION WITH SOMATIC RECOMBINATION
Authors: WALTER CA SHAFFER LG KAYE CI HUFF RW MCCASKILL C GHIDONI PD MCFARLAND MB MOORE CM
Citation: Ca. Walter et al., PARTIAL PATERNAL ISODISOMY-14 - EVIDENCE FOR A MITOTIC ORIGIN OF A ROBERTSONIAN TRANSLOCATION WITH SOMATIC RECOMBINATION, American journal of human genetics, 57(4), 1995, pp. 729-729
GENOTYPE AT THE MYELIN BASIC-PROTEIN LOCUS WITH CORRELATION TO MRI INTHE 18Q- SYNDROME
Authors: DUPONT BR GAY CT CODY JD PLAETKE R HARDIES LJ RAUCH RA GHIDONI PD FOX PT KAYE CI LEACH RJ
Citation: Br. Dupont et al., GENOTYPE AT THE MYELIN BASIC-PROTEIN LOCUS WITH CORRELATION TO MRI INTHE 18Q- SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1378-1378
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