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Kotzot-Richter_syndrome&action=edit&redlink=1
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- Uses of error: genetic counselling.
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Uploaded: 2001-12-1
- Whole genome amplification from microdissected chromosomes.
- Over the last years various whole genome amplification (WGA) methods have been established for genetic investigations from a limited number of cells or small quantities of DNA but not for molecular an...
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Uploaded: 2009-9-18
- Two complementary recombinant chromosomes 5 in a healthy woman.
- We report a healthy woman with two abortions who is a carrier for a rare heterozygous double recombinant of an inv(5) chromosome, karyotype 46,XX,rec(5)dup(5p) inv(5)(p13q22),rec(5)dup(5q)inv(5)(p13q2...
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Uploaded: 2006-7-11
- Complex and segmental uniparental disomy updated.
- OBJECTIVE: To review all cases with segmental and/or complex uniparental disomy (UPD) and to discuss the impact of these cases on medical genetics. DESIGN: Searching for published reports in PubMed an...
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Uploaded: 2008-6-6
- Pre- and postnatal findings in trisomy 17 mosaicism.
- Trisomy 17 mosaicism is one of the rarest autosomal trisomies in humans. Thus far, only 23 cases have been described, most of them detected prenatally. In only five instances has mosaicism been demons...
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Uploaded: 2006-6-28
- No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome.
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Uploaded: 2001-3-17
- Comments on the contribution by D. Kotzot et al. Townes-Brocks syndro...
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Uploaded: 1993-10-1
- Growth parameters in maternal uniparental disomy 7 and 14.
- INTRODUCTION: Growth retardation has been reported in most cases of maternal uniparental disomy (UPD) 7 and 14, but has never been evaluated in a systematic approach. In this study, an analysis is pre...
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Uploaded: 2007-1-5