UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 29

Sortiert nach

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

American journal of human genetics, 2003-05, Vol.72 (5), p.1200-1212

2003

Volltextzugriff (PDF)

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?

American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.259-267

2005

Volltextzugriff (PDF)

Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis

Prenatal diagnosis, 2002-11, Vol.22 (11), p.1028-1032

2002

Volltextzugriff (PDF)

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

Clinical genetics, 2003-10, Vol.64 (4), p.310-316

2003

Volltextzugriff (PDF)

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions

Human molecular genetics, 2003-09, Vol.12 (17), p.2153-2165

2003

Volltextzugriff (PDF)

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Journal of medical genetics, 2000-06, Vol.37 (6), p.428-433

2000

Volltextzugriff (PDF)

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

Human molecular genetics, 2003-09, Vol.12 (17), p.2145-2152

2003

Volltextzugriff (PDF)

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

American journal of medical genetics. Part A, 2004-11, Vol.131A (1), p.1-10

2004

Volltextzugriff (PDF)

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

American journal of human genetics, 2001-12, Vol.69 (6), p.1210-1217

2001

Volltextzugriff (PDF)

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.139-149

2005

Volltextzugriff (PDF)

The Promise and Pitfalls of Telomere Region–Specific Probes

American journal of human genetics, 2000-11, Vol.67 (5), p.1356-1358

2000

Volltextzugriff (PDF)

Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization

Prenatal diagnosis, 2006-04, Vol.26 (4), p.333-339

2006

Volltextzugriff (PDF)

Loss of the Potassium Channel β‐Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome

Epilepsia (Copenhagen), 2001-09, Vol.42 (9), p.1103-1111

2001

Volltextzugriff (PDF)

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes

Human molecular genetics, 2003-08, Vol.12 (15), p.1823-1837

2003

Volltextzugriff (PDF)

Characterization of Human Retinal Fascin Gene (FSCN2) at 17q25: Close Physical Linkage of Fascin and Cytoplasmic Actin Genes

Genomics (San Diego, Calif.), 2000-04, Vol.65 (2), p.146-156

2000

Volltextzugriff (PDF)

FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes

European journal of human genetics : EJHG, 2000-10, Vol.8 (10), p.764-770

2000

Volltextzugriff (PDF)

DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.471-478

1999

Volltextzugriff (PDF)

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease

Prenatal diagnosis, 2001-12, Vol.21 (13), p.1133-1136

2001

Volltextzugriff (PDF)

Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach

European journal of human genetics : EJHG, 2000-04, Vol.8 (4), p.293-298

2000

Volltextzugriff (PDF)

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization

Prenatal diagnosis, 1999-05, Vol.19 (5), p.446-449

1999

Volltextzugriff (PDF)

Molecular Cloning, Expression Analysis, and Chromosome Mapping of WDR6, a Novel Human WD-Repeat Gene

Biochemical and biophysical research communications, 2000-07, Vol.274 (1), p.117-123

2000

Volltextzugriff (PDF)

Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A

Annals of the New York Academy of Sciences, 1999-10, Vol.883 (1), p.457

1999

Volltextzugriff (PDF)

Recurrent Biparental Hydatidiform Mole: Additional Evidence for a 1.1-Mb Locus in 19q13.4 and Candidate Gene Analysis

Journal of the Society for Gynecologic Investigation, 2005-07, Vol.12 (5), p.376-383

2005

Volltextzugriff (PDF)

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

American journal of medical genetics, 2000-06, Vol.92 (4), p.250-255

2000

Volltextzugriff (PDF)

Subtelomeric FISH uncovers trisomy 14q32: Lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms

American journal of medical genetics, 2002-09, Vol.112 (1), p.23-27

2002

Volltextzugriff (PDF)

1 – 25 von 29

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(22)
Mit Volltextzugriff
(29)

Publikationsform

Artikel
(29)

Sprache

Englisch
(29)
Japanisch
(6)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(29)
Science & Technology
(29)
Humans
(28)
Genetics & Heredity
(25)
Biological And Medical Sciences
(19)
Female
(19)
In Situ Hybridization, Fluorescence
(18)
Male
(17)
Medical Sciences
(17)
Chromosome Aberrations
(10)
Chromosomes, Human, Pair 1 - Genetics
(8)
Medical Genetics
(8)
Pedigree
(8)
Biochemistry & Molecular Biology
(7)
Child
(7)
Child, Preschool
(7)
Chromosome Deletion
(7)
Abnormalities, Multiple - Genetics
(6)
Adolescent
(6)
Gene Deletion
(6)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?

Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

The Promise and Pitfalls of Telomere Region–Specific Probes

Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization

Loss of the Potassium Channel β‐Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes

Characterization of Human Retinal Fascin Gene (FSCN2) at 17q25: Close Physical Linkage of Fascin and Cytoplasmic Actin Genes

FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes

DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease

Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization

Molecular Cloning, Expression Analysis, and Chromosome Mapping of WDR6, a Novel Human WD-Repeat Gene

Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A

Recurrent Biparental Hydatidiform Mole: Additional Evidence for a 1.1-Mb Locus in 19q13.4 and Candidate Gene Analysis

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

Subtelomeric FISH uncovers trisomy 14q32: Lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms

Suchergebnisse filtern