Si mostrano 100 riferimenti a partire da 1 |
Per ulteriori informazioni selezionare i riferimenti di interesse.
Unexpected high rate of de novo constitutional t(11;22) translocations in sperm from normal males
NATURE GENETICS
Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei
EUROPEAN JOURNAL OF HUMAN GENETICS
Raciation and speciation in house mice from the Alps: the role of chromosomes
MOLECULAR ECOLOGY
Observed versus expected rates of unbalanced fetal karyotype at second trimester amniocentesis when one parent carries a balanced translocation
GYNECOLOGIC AND OBSTETRIC INVESTIGATION
Cytogenetic analysis in 61 couples with spontaneous abortions
CHINESE MEDICAL JOURNAL
Preimplantation genetic diagnosis of structural abnormalities
MOLECULAR AND CELLULAR ENDOCRINOLOGY
Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques
HUMAN REPRODUCTION
Preimplantation genetic diagnosis of pericentric inversions
PRENATAL DIAGNOSIS
A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: Molecular analysis of the chromosome 7 breakpoint
AMERICAN JOURNAL OF MEDICAL GENETICS
Testicular development, histology, and hormone profiles in three yearling angus bulls with spermatogenic arrest
THERIOGENOLOGY
A reciprocal translocation between 'Garfi' almond and 'Nemared' peach
THEORETICAL AND APPLIED GENETICS
Pericentromeric organization at the fusion point of mouse Robertsonian translocation chromosomes
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Developmental stability in house mice heterozygous for single Robertsonianfusions
JOURNAL OF HEREDITY
The equilibrium distribution for a generalized Sankoff-Ferretti model accurately predicts chromosome size distributions in a wide variety of species
JOURNAL OF APPLIED PROBABILITY
Detection of reciprocal fusion 5 '-BCL6/partner-3 ' transcripts in lymphomas exhibiting reciprocal BCL6 translocations
BRITISH JOURNAL OF HAEMATOLOGY
The Brussels' experience of more than 5 years of clinical preimplantation genetic diagnosis
HUMAN REPRODUCTION UPDATE
Meiosis and apoptosis in germ cells of X-autosome translocation carrier boars
MOLECULAR REPRODUCTION AND DEVELOPMENT
FISHing for mechanisms of cytogenetically defined terminal deletions usingchromosome-specific subtelomeric probes
EUROPEAN JOURNAL OF HUMAN GENETICS
Reproductive follow-up of carriers of familial reciprocal balanced translocations Involving chromosome 9 and comparison with predicted outcome
GENETIC COUNSELING
A complex chromosomal rearrangement associated with Hirschsprung's disease- A case report with a review of the literature
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
The possible association of structural chromosome aberrations with reproductive disturbances in the breeding pig
ACTA VETERINARIA-BEOGRAD
Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei
HUMAN GENETICS
Gonadal development and birth weight in X*X and X*Y females of the wood lemming, Myopus schisticolor
CYTOGENETICS AND CELL GENETICS
Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men
HUMAN REPRODUCTION
Clinical pregnancy following blastomere biopsy and PGD for a reciprocal translocation carrier: analysis of meiotic outcomes and embryo quality in twoIVF cycles
PRENATAL DIAGNOSIS
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
JOURNAL OF MEDICAL GENETICS
Contact zone between chromosomal races of Mus musculus domesticus. 2. Fertility and segregation in laboratory-reared and wild mice heterozygous for multiple Robertsonian rearrangements
HEREDITY
Effect of chromosomal translocations on the development of preimplantationhuman embryos in vitro
FERTILITY AND STERILITY
Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection
FERTILITY AND STERILITY
Outcome of preimplantation genetic diagnosis of translocations
FERTILITY AND STERILITY
Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility
CLINICAL GENETICS
Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3 : 1 MI segregation as the cause of liveborn offspring with an unbalanced translocation
AMERICAN JOURNAL OF HUMAN GENETICS
Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22)
MOLECULAR HUMAN REPRODUCTION
Testicular size and total sperm count of boars, bulls and stallions with impaired reproductive function of congenital and hereditary origin
REPRODUCTION IN DOMESTIC ANIMALS
The 8p11 myeloproliferative syndrome
MEDIZINISCHE KLINIK
A reciprocal translocation between autosomes 8 and 10 in a boar used for artificial insemination service and its effects on litter size
ANIMAL REPRODUCTION SCIENCE
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature
PRENATAL DIAGNOSIS
Prenatal finding of a fetus with mosaicism for two balanced de novo chromosome rearrangements
PRENATAL DIAGNOSIS
Unusual phenotype in partial trisomy 14
AMERICAN JOURNAL OF MEDICAL GENETICS
Small terminal deletion of 1p and duplication of 1q: Cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years
AMERICAN JOURNAL OF MEDICAL GENETICS
Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes
AMERICAN JOURNAL OF MEDICAL GENETICS
Mosaicism with a normal cell line and an unbalanced structural rearrangement
AMERICAN JOURNAL OF MEDICAL GENETICS
Monosomy 1p36
JOURNAL OF MEDICAL GENETICS
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism
JOURNAL OF MEDICAL GENETICS
A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements
CLINICAL GENETICS
FISH analysis with locus-specific probes in sperm from two translocation carrier men
CLINICAL GENETICS
Complex, compound inversion/translocation polymorphism in an ape: Presumptive intermediate stage in the karyotypic evolution of the agile gibbon Hylobates agilis
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY
Clustered 11q23 and 22q11 breakpoints and 3 : 1 meiotic malsegregation in multiple unrelated t(11;22) families
AMERICAN JOURNAL OF HUMAN GENETICS
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region
AMERICAN JOURNAL OF HUMAN GENETICS
CLASSICAL AND MOLECULAR CYTOGENETIC METHODS IN DIAGNOSIS OF A RARE TRANSLOCATION T(3-21)
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
CHARACTERIZATION OF THE BREAKPOINTS IN A T(8-13)(P11-Q12) TRANSLOCATION FROM A PATIENT WITH MYELOPROLIFERATIVE DISEASE USING FLUORESCENCE IN-SITU HYBRIDIZATION
Genes, chromosomes & cancer
CHARACTERIZATION OF A T(8-13)(P11-Q11-12) IN AN ATYPICAL MYELOPROLIFERATIVE DISORDER
Genes, chromosomes & cancer
RECIPROCAL X-1 TRANSLOCATION IN A CALF
Genetics selection evolution
Characterization of reciprocal translocations in pigs using dual-colour chromosome painting and primed in situ DNA labelling
CHROMOSOME RESEARCH
T(6-8), T(8-9) AND T(8-13) TRANSLOCATIONS ASSOCIATED WITH STEM-CELL MYELOPROLIFERATIVE DISORDERS HAVE CLOSE OR IDENTICAL BREAKPOINTS IN CHROMOSOME REGION 8P11-12
Oncogene
FISH on sperm heads allows the analysis of chromosome segregation and interchromosomal effects in carriers of structural rearrangements: results in atranslocation carrier, t(5;8)(q33;q13)
CYTOGENETICS AND CELL GENETICS
GENETIC CONTRIBUTION TO MALE-INFERTILITY
Human reproduction (Oxford. Print)
3 CASES OF MOSAICISM FOR BALANCED RECIPROCAL TRANSLOCATIONS
American journal of medical genetics
SUBMICROSCOPIC DELETION OF CHROMOSOME 16P13.3 IN PATIENTS WITH RUBINSTEIN-TAYBI-SYNDROME
American journal of medical genetics
Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation
AMERICAN JOURNAL OF MEDICAL GENETICS
Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy forchromosome 16
AMERICAN JOURNAL OF MEDICAL GENETICS
FIBROBLAST GROWTH-FACTOR RECEPTOR 1 IS USED TO FIM IN STEM-CELL MYELOPROLIFERATIVE DISORDER WITH T(8-13)(P12-Q12)
Proceedings of the National Academy of Sciences of the United Statesof America
THE ROLE OF DISPERSAL ABILITY IN THE PHENOTYPIC DIFFERENTIATION AND PLASTICITY OF 2 MARINE GASTROPODS II - GROWTH
Journal of experimental marine biology and ecology
MAPPING A TELOMERE USING THE TRANSLOCATION ET1(III-V) IN CAENORHABDITIS-ELEGANS
Genetics
CHROMOSOMAL HETEROZYGOSITY AND FERTILITY IN-HOUSE MICE (MUS-MUSCULUS-DOMESTICUS) FROM NORTHERN ITALY
Genetics
CYTOLOGICAL RELATIONSHIPS AMONG EUMELILOTUS SPECIES ANALYZED USING CYTOLOGICAL OBSERVATIONS OF INTERSPECIFIC HYBRIDS OBTAINED BY IN-VITRO CULTURE
Euphytica
COMPLEX CHROMOSOMAL REARRANGEMENTS ASSOCIATED WITH CONGENITAL ERYTHROPHAGOCYTOTIC HISTIOCYTOSIS
Clinical genetics
Meiotic studies in Largus rufipennis (Castelnau) (Largidae, Heteroptera). II. Reciprocal translocation heterozygosity
CARYOLOGIA
THE T(8-13) ATYPICAL MYELOPROLIFERATIVE DISORDER - FURTHER ANALYSIS OF THE ZNF198 GENE AND LACK OF EVIDENCE FOR MULTIPLE GENES DISRUPTED ONCHROMOSOME-13
Blood
MEIOSIS IN CARRIERS OF HETEROMORPHIC BIVALENTS - SEX-DIFFERENCES AND IMPLICATIONS FOR MALE-FERTILITY
Chromosome research
CONSTRUCTION OF A 1.2-MB CONTIG SURROUNDING, AND MOLECULAR ANALYSIS OF, THE HUMAN CREB-BINDING PROTEIN (CBP CREBBP) GENE ON CHROMOSOME 16P13.3/
Genomics
MEIOTIC STUDY OF HYBRIDS IN THE GENUS EULEMUR AND TAXONOMIC CONSIDERATIONS
American journal of primatology
CONSTITUTIONAL MOSAICISM FOR A CHROMOSOME-9 INVERSION RESULTING IN RECOMBINANT ANEUSOMY IN AN OFFSPRING
American journal of medical genetics
GENETIC-DISORDERS IN-HOUSE MOUSE GERM-CELLS AFTER THE CHERNOBYL CATASTROPHE
Mutation research
SUBMICROSCOPIC DELETIONS AT 16P13.3 IN RUBINSTEIN-TAYBI SYNDROME - FREQUENCY AND CLINICAL MANIFESTATIONS IN A NORTH-AMERICAN POPULATION
Journal of Medical Genetics
DIFFERENT PROXIMAL AND DISTAL REARRANGEMENTS OF CHROMOSOME 7Q ASSOCIATED WITH HOLOPROSENCEPHALY
Journal of Medical Genetics
MEDIAN CLEFT OF UPPER LIP AND PEDUNCULATED SKIN MASSES ASSOCIATED WITH DE-NOVO RECIPROCAL TRANSLOCATION 46,X,T(X-16)(Q28-Q11.2)
Journal of Medical Genetics
BRACHYDACTYLY IN A CHILD WITH DUPLICATION-DEFICIENCY SUBSEQUENT TO T(15-20)(Q25.2-P12.2)MAT - CANDIDATE REGIONS ON ONE OR BOTH CHROMOSOMES
Clinical genetics
IDENTICAL CHROMOSOME IMBALANCE IN 2 SIBLINGS BORN TO A MOTHER WITH A DOUBLE RECIPROCAL TRANSLOCATION
Annales de genetique
ANALYSIS USING DUAL-COLOR FLUORESCENCE IN-SITU HYBRIDIZATION OF MEIOTIC CHROMOSOME SEGREGATION IN MALE-MICE HETEROZYGOUS FOR A RECIPROCAL TRANSLOCATION
Chromosome research
MOLECULAR AND GENETIC-STUDIES ON THE REGION OF TRANSLOCATION AND DUPLICATION IN THE NEUROBLASTOMA CELL-LINE NGP AT THE 1P36.13-P36.32 CHROMOSOMAL SITE
Oncogene
CHROMOSOMAL INTERCHANGES AND PHYLOGENY OF SOME ACCESSIONS OF TRITICUM-AESTIVUM SUBSP SPELTA
Genetic resources and crop evolution
A YOUNG-CHILD WITH ACQUIRED T(8-9)(P11-Q34) - ADDITIONAL PROOF THAT 8P11 IS INVOLVED IN MIXED MYELOID T LYMPHOID MALIGNANCIES/
Leukemia
PATHOLOGY OF EWINGS-SARCOMA
Der Pathologe
HYBRID STERILITY IN THE MOUSE
Trends in genetics
MONOSOMY 1P36.31-33-]PTER DUE TO A PATERNAL RECIPROCAL TRANSLOCATION - PROGNOSTIC-SIGNIFICANCE OF FISH ANALYSIS
American journal of medical genetics
C-BANDING ANALYSIS ON WILD EMMER (TRITICUM-DICOCCOIDES KORN) STRAINS WITH AND WITHOUT SPONTANEOUS RECIPROCAL TRANSLOCATIONS
Theoretical and Applied Genetics
A HIGH-QUALITY PIG KEPT FOR BREEDING HAS TO BE FREE OF CHROMOSOMAL-ABNORMALITIES
Revue de Medecine Veterinaire
DER(22)T(11-22) RESULTING FROM A PATERNAL DE-NOVO TRANSLOCATION, ADJACENT-1 SEGREGATION, AND MATERNAL HETERODISOMY OF CHROMOSOME-22
Journal of Medical Genetics
RUBINSTEIN-TAYBI SYNDROME WITH DELETIONS OF FISH PROBE RT1 AT 16P13.3- 2 UK PATIENTS
Journal of Medical Genetics
PARTIAL TRISOMY 6P DUE TO MATERNAL T(1-6) TRANSLOCATION
Clinical genetics
CHRONIC MYELOMONOCYTIC LEUKEMIA WITH T(8-9)(P11-Q34) IN CHILDHOOD - AN EXAMPLE OF THE 8P11 MYELOPROLIFERATIVE DISORDER
British Journal of Haematology
CHARACTERIZATION OF A DE-NOVO T(Y-9)(Q11.2-Q22) BY FISH TECHNIQUE
Annales de genetique
THE MEIOTIC PAIRING BEHAVIOR IN SPERMATOCYTES OF HUMAN CARRIER OF CHROMOSOME-ANOMALIES AND THEIR REPERCUSSIONS ON REPRODUCTIVE FITNESS .2. ROBERTSONIAN AND RECIPROCAL TRANSLOCATIONS - A EUROPEAN COLLABORATIVE STUDY
Annales de genetique
THE AZOOSPERMIA FACTOR (AZF) OF THE HUMAN Y-CHROMOSOME IN YQ11 - FUNCTION AND ANALYSIS IN SPERMATOGENESIS
Reproduction, fertility and development
WHOLE-ARM RECIPROCAL TRANSLOCATION (WART) BETWEEN ROBERTSONIAN CHROMOSOMES - FINDING OF A ROBERTSONIAN HETEROZYGOUS MOUSE WITH KARYOTYPE DERIVED THROUGH WARTS
Chromosome research
A NEW MYELOPROLIFERATIVE DISORDER ASSOCIATED WITH CHROMOSOMAL TRANSLOCATIONS INVOLVING 8P11 - A REVIEW
Leukemia
3-TO-ONE SEGREGATION FROM RECIPROCAL TRANSLOCATION QUADRIVALENTS IN NEUROSPORA AND ITS BEARING ON THE INTERPRETATION OF SPORE-ABORTION PATTERNS IN UNORDERED ASCI
Genome
XY-QUADRIVALENT ASSOCIATION AND STERILITY IN A MAN CARRIER OF A RECIPROCAL AUTOSOMAL TRANSLOCATION INVOLVING THE WHOLE-ARM OF AN ACROCENTRIC CHROMOSOME T(2-15)(Q21.3-CEN)
Andrologia
BALANCED RECIPROCAL TRANSLOCATION MOSAICISM - HOW FREQUENT
American journal of medical genetics