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Wyszukujesz frazę ""Pfeiffer, R. A."" wg kryterium: Autor


Tytuł :
[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].
Autorzy :
Siegel AM; Neurologische Klinik, Universitätsspital Zürich. />Bertalanffy H
Dichgans JJ
Elger CE
Hopf H
Hopf N
Keidel M
Kleider A
Nowak G
Pfeiffer RA
Schramm J
Spuck S
Stefan H
Sure U
Baumann CR
Rouleau GA
Verlaan DJ
Andermann E
Andermann F
Pokaż więcej
Transliterated Title :
Familiäre Kavernome des Zentralnervensystems. Eine klinische und genetische Studie an 15 deutsche Familien.
Źródło :
Der Nervenarzt [Nervenarzt] 2005 Feb; Vol. 76 (2), pp. 175-80.
Typ publikacji :
Journal Article
MeSH Terms :
Brain/*metabolism
Carrier Proteins/*genetics
Genetic Testing/*methods
Intracranial Arteriovenous Malformations/*epidemiology
Intracranial Arteriovenous Malformations/*metabolism
Microtubule-Associated Proteins/*genetics
Proto-Oncogene Proteins/*genetics
Risk Assessment/*methods
Adult ; DNA Mutational Analysis/methods ; Female ; Genetic Predisposition to Disease/epidemiology ; Germany/epidemiology ; Humans ; Intracranial Arteriovenous Malformations/genetics ; KRIT1 Protein ; Male ; Pedigree ; Polymorphism, Genetic ; Prevalence ; Risk Factors
Czasopismo naukowe
Tytuł :
Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life.
Autorzy :
Rohrer TR; Hospital for Children and Adolescents, Division of Pediatric Endocrinology, Erlangen, Germany.
Gassmann KF
Rauch A
Pfeiffer RA
Doerr HG
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2004 Apr 01; Vol. 126A (1), pp. 78-83.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Diseases in Twins/*genetics
Mosaicism/*genetics
Turner Syndrome/*genetics
Twins, Monozygotic/*genetics
Chromosomes, Human, X/genetics ; Female ; Fetal Growth Retardation ; Growth Disorders ; Humans ; Infant ; Karyotyping ; Phenotype ; Sex Chromosome Aberrations ; Turkey ; Turner Syndrome/diagnosis
Czasopismo naukowe
Tytuł :
A comparative ZOO-FISH analysis in bats elucidates the phylogenetic relationships between Megachiroptera and five microchiropteran families.
Autorzy :
Volleth M; Institut für Humangenetik, Universität Erlangen-Nürnberg, Erlangen, Germany. />Heller KG
Pfeiffer RA
Hameister H
Pokaż więcej
Źródło :
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2002; Vol. 10 (6), pp. 477-97.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Banding*
Chromosome Painting*
Phylogeny*
Chiroptera/*classification
Chiroptera/*genetics
Animals ; Conserved Sequence ; Evolution, Molecular ; In Situ Hybridization, Fluorescence ; Karyotyping
Czasopismo naukowe
Tytuł :
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.
Autorzy :
Rauch A; Institute of Human Genetics, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany. />Schellmoser S
Kraus C
Dörr HG
Trautmann U
Altherr MR
Pfeiffer RA
Reis A
Pokaż więcej
Źródło :
American journal of medical genetics [Am J Med Genet] 2001 Apr 01; Vol. 99 (4), pp. 338-42.
Typ publikacji :
Journal Article
MeSH Terms :
Carrier Proteins*
Chromosome Deletion*
Repressor Proteins*
Abnormalities, Multiple/*genetics
Proteins/*genetics
Body Weight ; Child ; Craniofacial Abnormalities ; Cytogenetic Analysis ; Developmental Disabilities ; High Mobility Group Proteins/genetics ; Histone-Lysine N-Methyltransferase ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; Language Development Disorders ; Male ; Physical Chromosome Mapping ; Syndrome ; Transcriptional Elongation Factors
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.
Autorzy :
Schmid O; Department of Obstetrics and Gynaecology, Friedrich-Alexander-University Erlangen-Nuremberg, Germany.
Trautmann U
Ashour H
Ulmer R
Pfeiffer RA
Beinder E
Pokaż więcej
Źródło :
Prenatal diagnosis [Prenat Diagn] 2000 Dec; Vol. 20 (12), pp. 999-1003.
Typ publikacji :
Case Reports; Journal Article; Review; Twin Study
MeSH Terms :
Mosaicism*
Sex Determination Processes*
Twins, Monozygotic*
Prenatal Diagnosis/*methods
Amniocentesis ; Female ; Fetal Death ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Phenotype ; Pregnancy ; Turner Syndrome/diagnosis ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
RNA-based mutation screening in German families with Sjögren-Larsson syndrome.
Autorzy :
Kraus C; Institut für Humangenetik, Universität Erlangen-Nürnberg, Erlangen, Germany. />Braun-Quentin C
Ballhausen WG
Pfeiffer RA
Pokaż więcej
Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Apr; Vol. 8 (4), pp. 299-306.
Typ publikacji :
Journal Article
MeSH Terms :
Aldehyde Oxidoreductases/*genetics
RNA/*genetics
Sjogren-Larsson Syndrome/*genetics
Aldehyde Oxidoreductases/metabolism ; Alleles ; Base Sequence ; Codon, Terminator ; Exons ; Family Health ; Female ; Genetic Testing ; Genetic Variation ; Germany ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Polymorphism, Genetic ; RNA/metabolism ; RNA Stability/genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Deletion
Czasopismo naukowe
Tytuł :
[Diagnosis of aneuploidy with fluorescence in situ hybridization (FISH); value in pregnancies with increased risk for chromosome aberrations].
Autorzy :
Ulmer R; Institut für Humangenetik der Friedrich-Alexander-Universität Erlangen-Nürnberg.
Pfeiffer RA
Kollert A
Beinder E
Pokaż więcej
Transliterated Title :
Aneuploidiediagnostik mittels Fluoreszenz-in-situ-Hybridisierung (FISH); Stellenwert bei Schwangerschaften mit erhöhtem Risiko für Chromosomenaberrationen.
Źródło :
Zeitschrift fur Geburtshilfe und Neonatologie [Z Geburtshilfe Neonatol] 2000 Jan-Feb; Vol. 204 (1), pp. 1-7.
Typ publikacji :
English Abstract; Journal Article
MeSH Terms :
Amniocentesis*
Aneuploidy*
In Situ Hybridization, Fluorescence*
Chromosome Aberrations/*diagnosis
Chromosome Aberrations/genetics ; Chromosome Disorders ; Female ; Humans ; Infant, Newborn ; Mosaicism/genetics ; Predictive Value of Tests ; Pregnancy ; Risk Factors ; Sex Chromosome Aberrations/diagnosis ; Sex Chromosome Aberrations/genetics ; Trisomy/genetics ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.
Autorzy :
Cursiefen C; Department of Ophthalmology, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany. />Schlötzer-Schrehardt U
Holbach LM
Pfeiffer RA
Naumann GO
Pokaż więcej
Źródło :
Archives of ophthalmology (Chicago, Ill. : 1960) [Arch Ophthalmol] 1999 May; Vol. 117 (5), pp. 681-4.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Eye Abnormalities/*pathology
Eyebrows/*abnormalities
Eyelashes/*abnormalities
Hair Diseases/*pathology
Ichthyosis, X-Linked/*pathology
Light/*adverse effects
Vision Disorders/*pathology
Abnormalities, Multiple/pathology ; Adult ; Cornea/ultrastructure ; Humans ; Male ; Syndrome ; Vision Disorders/etiology
Czasopismo naukowe
Tytuł :
Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat.
Autorzy :
Pfeiffer RA; Institut für Humangenetik, Universität Erlangen-Nürnberg, Erlangen, Germany. />Rauch A
Trautmann U
Dörr HG
Hiort O
Scherer G
Rösch G
Papadopoulos T
v d Hardt K
Lachmann E
Pokaż więcej
Źródło :
European journal of pediatrics [Eur J Pediatr] 1999 Mar; Vol. 158 (3), pp. 213-6.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 9*
Gene Duplication*
Trisomy*
Gonadal Dysgenesis, 46,XY/*complications
Abnormalities, Multiple/genetics ; Chromosomes, Human, Pair 8 ; Gonadal Dysgenesis, 46,XY/genetics ; Humans ; Infant ; Karyotyping ; Male
Czasopismo naukowe
Tytuł :
A novel 22q11.2 microdeletion in DiGeorge syndrome.
Autorzy :
Rauch A
Pfeiffer RA
Leipold G
Singer H
Tigges M
Hofbeck M
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 1999 Feb; Vol. 64 (2), pp. 659-66.
Typ publikacji :
Letter
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 22*
DiGeorge Syndrome/*genetics
Child ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Pedigree ; Phenotype
Opinia redakcyjna
Tytuł :
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.
Autorzy :
Gustavsson P; Unit of Clinical Genetics, Department of Genetics and Pathology, Uppsala University Children's Hospital, Uppsala, Sweden.
Garelli E
Draptchinskaia N
Ball S
Willig TN
Tentler D
Dianzani I
Punnett HH
Shafer FE
Cario H
Ramenghi U
Glomstein A
Pfeiffer RA
Goringe A
Olivieri NF
Smibert E
Tchernia G
Elinder G
Dahl N
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 1998 Nov; Vol. 63 (5), pp. 1388-95.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 19*
Polymorphism, Genetic*
Sequence Deletion*
Fanconi Anemia/*genetics
Chromosome Mapping ; Female ; Genetic Carrier Screening ; Genetic Markers ; Humans ; Lod Score ; Male ; Molecular Sequence Data ; Nuclear Family ; Pedigree ; Recombination, Genetic
Czasopismo naukowe
Tytuł :
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
Autorzy :
Keyvani K; Department of Neuropathology, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.
Paulus W
Traupe H
Kiesewetter F
Cursiefen C
Huk W
Raab K
Orth U
Rauch A
Pfeiffer RA
Pokaż więcej
Źródło :
American journal of medical genetics [Am J Med Genet] 1998 Jul 24; Vol. 78 (4), pp. 371-7.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Abnormalities, Multiple*
Ichthyosis*
Vision Disorders*
Alopecia/*congenital
Blindness ; Brain/pathology ; Diagnosis, Differential ; Fatal Outcome ; Humans ; Ichthyosis, X-Linked ; Infant, Newborn ; Intellectual Disability ; Light ; Magnetic Resonance Imaging ; Male ; Psychomotor Disorders ; Seizures ; Syndrome
Czasopismo naukowe
Tytuł :
Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.
Autorzy :
Rauch A; Institute of Human Genetics, University of Erlangen-Nürnberg, Erlangen, Germany. />Hofbeck M
Leipold G
Klinge J
Trautmann U
Kirsch M
Singer H
Pfeiffer RA
Pokaż więcej
Źródło :
American journal of medical genetics [Am J Med Genet] 1998 Jul 24; Vol. 78 (4), pp. 322-31.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Aorta, Thoracic/*abnormalities
DiGeorge Syndrome/*genetics
Heart Defects, Congenital/*genetics
Child ; Child, Preschool ; DiGeorge Syndrome/immunology ; Female ; Genetic Testing ; Genotype ; Heart Defects, Congenital/immunology ; Heart Defects, Congenital/mortality ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Male ; Minisatellite Repeats ; Phenotype ; Polymerase Chain Reaction ; Polymorphism, Genetic
Czasopismo naukowe
Tytuł :
Rapid RT-PCR-based protein truncation test in the screening for 5' located mutations of the APC gene.
Autorzy :
Kraus C; Institut fuer Humangenetik, Universitaet Erlangen-Nuremberg, Germany.
Günther K
Vogler A
Hohenberger W
Pfeiffer RA
Ballhausen WG
Pokaż więcej
Źródło :
Molecular and cellular probes [Mol Cell Probes] 1998 Jun; Vol. 12 (3), pp. 143-7.
Typ publikacji :
Journal Article
MeSH Terms :
Codon, Terminator*
Genes, APC*
Point Mutation*
Sequence Deletion*
Pigment Epithelium of Eye/*pathology
Polymerase Chain Reaction/*methods
Adenomatous Polyposis Coli Protein ; Cytoskeletal Proteins/chemistry ; Cytoskeletal Proteins/genetics ; DNA/blood ; DNA Primers ; Exons ; Humans ; Hypertrophy ; Introns ; Leukocytes ; Open Reading Frames ; Retinal Diseases/congenital ; Retinal Diseases/genetics
Czasopismo naukowe
Tytuł :
Centromeric alphoid DNA heteromorphisms of chromosome 22 revealed by FISH-technique.
Autorzy :
Liehr T
Pfeiffer RA
Trautmann U
Gebhart E
Pokaż więcej
Źródło :
Clinical genetics [Clin Genet] 1998 Mar; Vol. 53 (3), pp. 231-2.
Typ publikacji :
Comment; Letter
MeSH Terms :
Chromosomes, Human, Pair 22*
Centromere/*genetics
DNA/*genetics
Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 14 ; DNA Probes ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics
Opinia redakcyjna
Tytuł :
Monozygotic twins concordant for Cayler syndrome.
Autorzy :
Rauch A; Institute of Human Genetics, University of Erlangen-Nürnberg, Erlangen, Germany.
Hofbeck M
Bähring S
Leipold G
Trautmann U
Singer H
Pfeiffer RA
Pokaż więcej
Źródło :
American journal of medical genetics [Am J Med Genet] 1998 Jan 06; Vol. 75 (1), pp. 113-7.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Facial Asymmetry/*genetics
Heart Defects, Congenital/*genetics
Twins, Monozygotic/*genetics
Chromosomes, Human, Pair 22/ultrastructure ; Crying ; Humans ; Infant, Newborn ; Male ; Syndrome
Czasopismo naukowe
Tytuł :
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis.
Autorzy :
Michels-Rautenstrauss KG; Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nurnberg, Germany.
Mardin CY
Budde WM
Liehr T
Polansky J
Nguyen T
Timmerman V
Van Broeckhoven C
Naumann GO
Pfeiffer RA
Rautenstrauss BW
Pokaż więcej
Źródło :
Human genetics [Hum Genet] 1998 Jan; Vol. 102 (1), pp. 103-6.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Mapping*
Glycoproteins*
Point Mutation*
Chromosomes, Human, Pair 1/*genetics
Eye Proteins/*genetics
Glaucoma, Open-Angle/*genetics
Adolescent ; Adult ; Cytoskeletal Proteins ; DNA Mutational Analysis ; Female ; Humans ; Male ; Pedigree ; Trabecular Meshwork/chemistry
Czasopismo naukowe
Tytuł :
True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the dilemma persists.
Autorzy :
Pfeiffer RA; Institut für Humangenetick, Erlangen, Germany.
Ulmer R
Rauch A
Trautmann U
Beinder E
Rupprecht T
Mayer U
Steinkirchner B
Wündisch GF
Pokaż więcej
Źródło :
Prenatal diagnosis [Prenat Diagn] 1997 Dec; Vol. 17 (12), pp. 1171-5.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 20*
Fetal Diseases/*diagnosis
Isochromosomes/*genetics
Mosaicism/*genetics
Adult ; Amniocentesis ; Amniotic Fluid/cytology ; Biopsy ; Cells, Cultured ; Female ; Fetal Blood/cytology ; Fetal Diseases/blood ; Fetal Diseases/pathology ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Mosaicism/pathology ; Placenta/pathology ; Pregnancy ; Skin/pathology ; Umbilical Cord/pathology
Czasopismo naukowe
Tytuł :
Second-trimester diagnosis of fetal cataract in a fetus with Walker-Warburg syndrome.
Autorzy :
Beinder EJ; Department of Obstetrics and Gynecology, University Hospital of Erlangen, Germany.
Pfeiffer RA
Bornemann A
Wenkel H
Pokaż więcej
Źródło :
Fetal diagnosis and therapy [Fetal Diagn Ther] 1997 Jul-Aug; Vol. 12 (4), pp. 197-9.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Ultrasonography, Prenatal*
Brain/*abnormalities
Cataract/*diagnostic imaging
Eye Abnormalities/*complications
Fetal Diseases/*diagnostic imaging
Muscular Dystrophies/*congenital
Adult ; Cataract/pathology ; Female ; Gestational Age ; Humans ; Pregnancy ; Pregnancy Trimester, Second ; Syndrome
Czasopismo naukowe

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