Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Wyszukujesz frazę ""Szafranski, Przemyslaw"" wg kryterium: Autor


Wyświetlanie 1-20 z 20
Tytuł:
Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia.
Autorzy:
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, ABBR-R809, Houston, TX, 77030, USA.
Garimella RP; Department of Pediatrics, Inova LJ Murphy Children's Hospital, Falls Church, VA, USA.
Mani H; Department of Pathology, Inova Fairfax Hospital, Falls Church, VA, USA.
Hartman R; Inova Department of Genetics, Inova Fairfax Medical Campus, Falls Church, VA, USA.
Deutsch G; University of Washington School of Medicine, Seattle, WA, USA.
Silk A; Neonatology, Fairfax Neonatology Associates, Inova Fair Oaks Hospital, Inova LJ Murphy, Children's Hospital, Fairfax, VA, USA.
Benheim A; Division of Pediatric Cardiology, Inova LJ Murphy Children's Hospital, Falls Church, VA, USA.
Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, ABBR-R809, Houston, TX, 77030, USA. .
Pokaż więcej
Źródło:
Clinical epigenetics [Clin Epigenetics] 2023 Oct 21; Vol. 15 (1), pp. 169. Date of Electronic Publication: 2023 Oct 21.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Persistent Fetal Circulation Syndrome*/genetics
Humans ; Infant, Newborn ; Sequence Deletion ; DNA Methylation ; Lung/pathology ; Enhancer Elements, Genetic ; Forkhead Transcription Factors/genetics
SCR Disease Name:
Alveolar capillary dysplasia
Czasopismo naukowe
Tytuł:
A Small De Novo CNV Deletion of the Paternal Copy of FOXF1 , Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region.
Autorzy:
Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pokaż więcej
Źródło:
Non-coding RNA [Noncoding RNA] 2023 Oct 09; Vol. 9 (5). Date of Electronic Publication: 2023 Oct 09.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
New Dielis species and structural dichotomy of the mitochondrial cox2 gene in Scoliidae wasps.
Autorzy:
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Pokaż więcej
Źródło:
Scientific reports [Sci Rep] 2023 Feb 02; Vol. 13 (1), pp. 1950. Date of Electronic Publication: 2023 Feb 02.
Typ publikacji:
Journal Article
MeSH Terms:
Wasps*/genetics
Hymenoptera*/genetics
Genome, Mitochondrial*
Animals ; Genes, Mitochondrial ; DNA, Mitochondrial/genetics ; Hydrophobic and Hydrophilic Interactions
Czasopismo naukowe
Tytuł:
High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.
Autorzy:
Yıldız Bölükbaşı E; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Karolak JA; Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.
Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Gambin T; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
Willard N; Department of Pathology and Laboratory Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Abman SH; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Galambos C; Department of Pathology and Laboratory Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Kinsella JP; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Nov; Vol. 10 (11), pp. e2062. Date of Electronic Publication: 2022 Sep 20.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Persistent Fetal Circulation Syndrome*/genetics
Persistent Fetal Circulation Syndrome*/pathology
Humans ; Infant ; Infant, Newborn ; Female ; Mosaicism ; Mouth Mucosa/pathology ; Sequence Deletion ; Forkhead Transcription Factors/genetics ; Lung/pathology
SCR Disease Name:
Alveolar capillary dysplasia
Czasopismo naukowe
Tytuł:
Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.
Autorzy:
Karolak JA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA.; Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-781, Poznań, Poland.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA.; Institute of Computer Science, Warsaw University of Technology, 00-665, Warsaw, Poland.
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA.
Maywald RL; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA.
Popek E; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, 77030, USA.
Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA.
Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA. .
Pokaż więcej
Źródło:
Respiratory research [Respir Res] 2021 Jul 27; Vol. 22 (1), pp. 212. Date of Electronic Publication: 2021 Jul 27.
Typ publikacji:
Journal Article
MeSH Terms:
Forkhead Transcription Factors/*metabolism
Lung/*metabolism
Persistent Fetal Circulation Syndrome/*metabolism
Semaphorins/*metabolism
Signal Transduction/*physiology
Vascular Endothelial Growth Factor A/*metabolism
Cells, Cultured ; Female ; Forkhead Transcription Factors/genetics ; Gene Expression Profiling/methods ; Gene Knockdown Techniques/methods ; Humans ; Infant, Newborn ; Lung/pathology ; Male ; Persistent Fetal Circulation Syndrome/genetics ; Persistent Fetal Circulation Syndrome/pathology ; Semaphorins/genetics ; Vascular Endothelial Growth Factor A/genetics
Czasopismo naukowe
Tytuł:
Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq.
Autorzy:
Karolak JA; Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA.; Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-781, Poznan, Poland.
Gambin T; Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA.; Institute of Computer Science, Warsaw University of Technology, 00-665, Warsaw, Poland.
Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA.
Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA. .
Pokaż więcej
Źródło:
Respiratory research [Respir Res] 2021 Jan 21; Vol. 22 (1), pp. 26. Date of Electronic Publication: 2021 Jan 21.
Typ publikacji:
Journal Article
MeSH Terms:
Chromatin Immunoprecipitation Sequencing/*methods
Fibroblast Growth Factor 10/*metabolism
Forkhead Transcription Factors/*metabolism
Hedgehog Proteins/*metabolism
Lung/*metabolism
T-Box Domain Proteins/*metabolism
Fetal Development/physiology ; Fibroblast Growth Factor 10/genetics ; Forkhead Transcription Factors/genetics ; Hedgehog Proteins/genetics ; Humans ; Lung/blood supply ; Lung/embryology ; Protein Binding/immunology ; T-Box Domain Proteins/genetics
Czasopismo naukowe
Tytuł:
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Autorzy:
Schulze KV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lesmana H; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Hamvas A; Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Wambach JA; Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Shinawi M; Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Zapata G; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Liu Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Karolak JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. .; USDA/ARS/Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX, USA. .
Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. .
Pokaż więcej
Źródło:
Clinical epigenetics [Clin Epigenetics] 2019 Apr 08; Vol. 11 (1), pp. 60. Date of Electronic Publication: 2019 Apr 08.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Methylation*
Polymorphism, Single Nucleotide*
Sequence Analysis, DNA/*methods
Uniparental Disomy/*genetics
Cells, Cultured ; Chromosomes, Human, Pair 16/genetics ; Female ; Fibroblasts/chemistry ; Fibroblasts/cytology ; Genomic Imprinting ; Humans ; Male ; Skin/chemistry ; Skin/cytology
SCR Disease Name:
Chromosome 16, uniparental disomy
Czasopismo naukowe
Tytuł:
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.
Autorzy:
Salehi Karlslätt K; Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Pediatrics, Karolinska University Hospital, Stockholm, Sweden.
Pettersson M; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Jäntti N; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Wester T; Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Husberg B; Department of General Surgery, Ersta Hospital, Stockholm, Sweden.
Ullberg U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden.
Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Nordgren A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Lundin J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Lindstrand A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Nordenskjöld A; Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Mar; Vol. 7 (3), pp. e549. Date of Electronic Publication: 2019 Jan 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
De Lange Syndrome/*genetics
Digestive System Abnormalities/*genetics
Intestinal Volvulus/*genetics
Williams Syndrome/*genetics
Adolescent ; Adult ; Aged ; Alleles ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16/genetics ; Chromosomes, Human, Pair 18/genetics ; De Lange Syndrome/diagnostic imaging ; De Lange Syndrome/pathology ; Digestive System Abnormalities/diagnostic imaging ; Digestive System Abnormalities/pathology ; Female ; Humans ; Infant ; Infant, Newborn ; Intestinal Volvulus/diagnostic imaging ; Intestinal Volvulus/pathology ; Male ; Middle Aged ; Williams Syndrome/diagnostic imaging ; Williams Syndrome/pathology
SCR Disease Name:
Volvulus Of Midgut
Czasopismo naukowe
Tytuł:
CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.
Autorzy:
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Karolak JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Lanza D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Gajęcka M; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Heaney J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
Pokaż więcej
Źródło:
Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2017 Aug; Vol. 28 (7-8), pp. 275-282. Date of Electronic Publication: 2017 Apr 12.
Typ publikacji:
Journal Article
MeSH Terms:
CRISPR-Cas Systems*
Enhancer Elements, Genetic*
Gene Editing*
Sequence Deletion*
Forkhead Transcription Factors/*genetics
RNA, Long Noncoding/*genetics
Alleles ; Animals ; Binding Sites ; Gene Dosage ; Gene Expression ; Gene Knockout Techniques ; Genotype ; Humans ; Mice ; Mice, Knockout ; Mutagenesis ; Persistent Fetal Circulation Syndrome/genetics ; Protein Binding
Czasopismo naukowe
Tytuł:
Evolutionarily recent, insertional fission of mitochondrial cox2 into complementary genes in bilaterian Metazoa.
Autorzy:
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, ABBR, R851C, Houston, TX, 77030, USA. .
Pokaż więcej
Źródło:
BMC genomics [BMC Genomics] 2017 Mar 31; Vol. 18 (1), pp. 269. Date of Electronic Publication: 2017 Mar 31.
Typ publikacji:
Journal Article
MeSH Terms:
Evolution, Molecular*
Genes, Mitochondrial*
Mutagenesis, Insertional*
Electron Transport Complex IV/*genetics
Mitochondrial Dynamics/*genetics
Animals ; Electron Transport Complex IV/chemistry ; Gene Expression Regulation ; Genome, Mitochondrial ; Hydrophobic and Hydrophilic Interactions ; Phylogeny ; Polyadenylation
Czasopismo naukowe
Tytuł:
Mechanisms for Complex Chromosomal Insertions.
Autorzy:
Gu S; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Akdemir ZC; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Yuan B; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Cooper ML; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Magriñá MA; Medical Specialties Unit From City Hall São José dos Campos, São Paulo, Brazil.
Bacino CA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.
Lalani SR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.
Breman AM; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Smith JL; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Patel A; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Song RH; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Bi W; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Cheung SW; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Carvalho CM; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Lupski JR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.
Pokaż więcej
Źródło:
PLoS genetics [PLoS Genet] 2016 Nov 23; Vol. 12 (11), pp. e1006446. Date of Electronic Publication: 2016 Nov 23 (Print Publication: 2016).
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Aberrations*
Chromosome Inversion/*genetics
DNA Replication/*genetics
Gene Duplication/*genetics
Comparative Genomic Hybridization ; DNA Copy Number Variations/genetics ; Female ; Genome, Human ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Sequence Analysis, DNA ; Translocation, Genetic
Czasopismo naukowe
Tytuł:
Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV.
Autorzy:
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, ABBR R809, Houston, TX 77030 USA.
Herrera C; Department of Pediatrics, University of New Mexico, Albuquerque, NM USA.
Proe LA; Department of Pathology, University of New Mexico, Albuquerque, NM USA.
Coffman B; Department of Pathology, University of New Mexico, Albuquerque, NM USA.
Kearney DL; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX USA.
Popek E; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX USA.
Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, ABBR R809, Houston, TX 77030 USA.
Pokaż więcej
Źródło:
Clinical epigenetics [Clin Epigenetics] 2016 Nov 03; Vol. 8, pp. 112. Date of Electronic Publication: 2016 Nov 03 (Print Publication: 2016).
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Enhancer Elements, Genetic*
Sequence Deletion*
Chromosomes, Human, Pair 16/*genetics
Forkhead Transcription Factors/*genetics
Persistent Fetal Circulation Syndrome/*genetics
RNA, Long Noncoding/*genetics
Binding Sites ; Comparative Genomic Hybridization ; CpG Islands ; Estrogen Receptor alpha/genetics ; Female ; Forkhead Transcription Factors/chemistry ; GATA3 Transcription Factor/genetics ; Genomic Imprinting ; Humans ; Infant, Newborn ; Male ; Sequence Analysis, DNA/methods ; YY1 Transcription Factor/genetics
Czasopismo naukowe
Tytuł:
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
Autorzy:
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Golla S; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Jin W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Fang P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Hixson P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Matalon R; Division of General Academic Pediatrics, Department of Pediatrics, The University of Texas Medical Branch at Galveston, Galveston, TX, USA.
Kinney D; Memorial Children's Hospital Navarre Pediatrics South Bend, South Bend, IN, USA.
Bock HG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.
Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Patel A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Wai Cheung S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jul; Vol. 23 (7), pp. 915-21. Date of Electronic Publication: 2014 Oct 15.
Typ publikacji:
Journal Article
MeSH Terms:
Gene Duplication*
Autistic Disorder/*genetics
Developmental Disabilities/*genetics
Genetic Predisposition to Disease/*genetics
Protein Serine-Threonine Kinases/*genetics
Adolescent ; Adult ; Attention Deficit Disorder with Hyperactivity/diagnosis ; Attention Deficit Disorder with Hyperactivity/genetics ; Autistic Disorder/diagnosis ; Base Sequence ; Child ; Comparative Genomic Hybridization ; Developmental Disabilities/diagnosis ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Inheritance Patterns ; Language Development Disorders/diagnosis ; Language Development Disorders/genetics ; Male ; Megalencephaly/diagnosis ; Megalencephaly/genetics ; Molecular Sequence Data ; Sequence Analysis, DNA ; X Chromosome Inactivation
Czasopismo naukowe
Tytuł:
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
Autorzy:
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Von Allmen GK; Division of Child and Adolescent Neurology, Department of Pediatrics, University of Texas Health Science Center at Houston, TX, USA.
Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Wilfong AA; Department of Pediatric Neurology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
Kang SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Ferreira JA; Department of Pediatrics, University of South Florida, Tampa, FL, USA.
Upton SJ; Section of Medical Genetics, Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
Moeschler JB; Section of Medical Genetics, Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Rosenfeld JA; Signature Genomic Laboratories, PerkinElmer Inc., Spokane, WA, USA.
Shaffer LG; Paw Print Genetics, Genetic Veterinary Sciences Inc., Spokane, WA, USA.
Wai Cheung S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Feb; Vol. 23 (2), pp. 173-9. Date of Electronic Publication: 2014 May 14.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Deletion*
Chromosomes, Human, Pair 6/*genetics
Epilepsy/*genetics
Membrane Transport Proteins/*metabolism
Nerve Tissue Proteins/*metabolism
Child, Preschool ; Epilepsy/diagnosis ; Female ; Humans ; Male ; Membrane Transport Proteins/genetics ; Nerve Tissue Proteins/genetics ; Receptors, Cell Surface/genetics
Czasopismo naukowe
Tytuł:
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Autorzy:
Dharmadhikari AV; Interdepartmental Program in Translational Biology & Molecular Medicine, Baylor College of Medicine, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Cao W; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Probst FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Jin W; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Fang P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Gogolewski K; Institute of Informatics, University of Warsaw, Warsaw, Poland. .
Gambin A; Institute of Informatics, University of Warsaw, Warsaw, Poland. .; Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland. .
George-Abraham JK; Specially for Children, Dell's Children's Medical Center, Austin, TX, USA. .
Golla S; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA. .
Boidein F; Neuropediatrics Service, Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France. .
Duban-Bedu B; Cytogenetics Service, Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France. .
Delobel B; Cytogenetics Service, Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France. .
Andrieux J; Laboratory of Medical Genetics, University Hospital, Lille, France. .
Becker K; Medical Genetics Center, Munich, Germany. .
Holinski-Feder E; Medical Genetics Center, Munich, Germany. .
Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Stankiewicz P; Interdepartmental Program in Translational Biology & Molecular Medicine, Baylor College of Medicine, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. .
Pokaż więcej
Źródło:
BMC medical genetics [BMC Med Genet] 2014 Dec 04; Vol. 15, pp. 128. Date of Electronic Publication: 2014 Dec 04.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Duplication*
Abnormalities, Multiple/*genetics
Chromosomes, Human, Pair 16/*genetics
Forkhead Transcription Factors/*genetics
Abnormalities, Multiple/pathology ; Adolescent ; Animals ; Child, Preschool ; Evolution, Molecular ; Female ; Gene Dosage ; Humans ; Male ; Middle Aged ; Minisatellite Repeats ; Pedigree
Czasopismo naukowe
Tytuł:
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice.
Autorzy:
Sen P; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.
Dharmadhikari AV; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, United States of America.
Majewski T; Department of Pathology, University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Mohammad MA; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.
Kalin TV; Division of Pulmonary Biology, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, United States of America.
Zabielska J; Institute of Informatics, University of Warsaw, Warsaw, Poland.
Ren X; Division of Pulmonary Biology, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, United States of America.
Bray M; Department of Epidemiology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Brown HM; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Robinson Research Institute, School of Pediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia.
Welty S; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.
Thevananther S; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, United States of America.
Langston C; Department of Pathology, Baylor College of Medicine, Houston, Texas, United States of America.
Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Justice MJ; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, United States of America.
Kalinichenko VV; Division of Pulmonary Biology, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, United States of America.
Gambin A; Institute of Informatics, University of Warsaw, Warsaw, Poland; Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
Belmont J; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, United States of America.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2014 Apr 10; Vol. 9 (4), pp. e94390. Date of Electronic Publication: 2014 Apr 10 (Print Publication: 2014).
Typ publikacji:
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, Lethal*
Transcriptome*
Forkhead Transcription Factors/*genetics
Lung/*metabolism
Persistent Fetal Circulation Syndrome/*genetics
Pulmonary Alveoli/*abnormalities
Pulmonary Veins/*metabolism
Animals ; Animals, Newborn ; Female ; Forkhead Transcription Factors/deficiency ; Gene Expression Profiling ; Gene Expression Regulation ; Heterozygote ; Humans ; Infant, Newborn ; Lung/abnormalities ; Lung/blood supply ; Male ; Metabolic Networks and Pathways ; Mice ; Mice, Knockout ; Persistent Fetal Circulation Syndrome/metabolism ; Pulmonary Alveoli/blood supply ; Pulmonary Alveoli/metabolism ; Pulmonary Veins/abnormalities
SCR Disease Name:
Alveolar capillary dysplasia
Czasopismo naukowe
Tytuł:
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.
Autorzy:
Witsch J; Department of Neurology, Charité University Medicine, Campus Virchow Klinikum, Berlin, Germany.
Szafranski P
Chen CA
Immken L
Simpson Patel G
Hixson P
Cheung SW
Stankiewicz P
Schaaf CP
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Nov; Vol. 21 (11), pp. 1304-7. Date of Electronic Publication: 2013 Mar 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Deletion*
Developmental Disabilities/*genetics
Mental Disorders/*genetics
Receptor, IGF Type 1/*genetics
Child ; Comparative Genomic Hybridization ; Exons/genetics ; Humans ; Infant ; Male ; Phenotype ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Real-Time Polymerase Chain Reaction ; Receptor, IGF Type 1/metabolism ; Sequence Deletion
Czasopismo naukowe
Tytuł:
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Autorzy:
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. />Shaw C
Wang X
Patel A
Patterson LW
Kolodziejska K
Szafranski P
Ou Z
Tian Q
Kang SH
Jinnah A
Ali S
Malik A
Hixson P
Potocki L
Lupski JR
Stankiewicz P
Bacino CA
Dawson B
Beaudet AL
Boricha FM
Whittaker R
Li C
Ware SM
Cheung SW
Penny DJ
Jefferies JL
Belmont JW
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Feb; Vol. 21 (2), pp. 173-81. Date of Electronic Publication: 2012 Aug 29.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genome-Wide Association Study*
Cardiovascular Diseases/*genetics
Chromosome Disorders/*genetics
DNA Copy Number Variations/*genetics
Aneuploidy ; Cardiovascular Diseases/physiopathology ; Chromosome Disorders/physiopathology ; Chromosomes, Human, Pair 16/genetics ; Chromosomes, Human, Pair 22/genetics ; Cohort Studies ; Eye Abnormalities ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Polymorphism, Single Nucleotide ; Protein Interaction Maps/genetics ; Sequence Deletion
SCR Disease Name:
Schmid-Fraccaro syndrome
Czasopismo naukowe
Tytuł:
The mitochondrial trn-cox1 locus: rapid evolution in Pompilidae and evidence of bias in cox1 initiation and termination codon usage.
Autorzy:
Szafranski P; Department of Pathology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Pokaż więcej
Źródło:
Mitochondrial DNA [Mitochondrial DNA] 2009 Feb; Vol. 20 (1), pp. 15-25.
Typ publikacji:
Journal Article
MeSH Terms:
Evolution, Molecular*
Genes, Insect*
DNA, Mitochondrial/*genetics
Wasps/*genetics
Amino Acid Sequence ; Animals ; Base Sequence ; Codon, Initiator/genetics ; Codon, Terminator/genetics ; DNA Primers/genetics ; Electron Transport Complex IV/genetics ; Gene Rearrangement ; Genes, Mitochondrial ; Genomic Instability ; Molecular Sequence Data ; Phylogeny ; RNA, Transfer/genetics ; Sequence Homology, Amino Acid ; Sequence Homology, Nucleic Acid ; Wasps/enzymology
Czasopismo naukowe
Tytuł:
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.
Autorzy:
Tian XL; Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio 44195, USA.
Kadaba R
You SA
Liu M
Timur AA
Yang L
Chen Q
Szafranski P
Rao S
Wu L
Housman DE
DiCorleto PE
Driscoll DJ
Borrow J
Wang Q
Pokaż więcej
Źródło:
Nature [Nature] 2004 Feb 12; Vol. 427 (6975), pp. 640-5.
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Genetic Predisposition to Disease*
Neovascularization, Pathologic*
Angiogenic Proteins/*genetics
Angiogenic Proteins/*metabolism
Klippel-Trenaunay-Weber Syndrome/*genetics
Mutation/*genetics
Amino Acid Sequence ; Angiogenic Proteins/chemistry ; Animals ; Apoptosis Regulatory Proteins ; Base Sequence ; Carrier Proteins/metabolism ; Cell Adhesion ; Cells, Cultured ; Chick Embryo ; Cytokine TWEAK ; Endothelium, Vascular/metabolism ; Endothelium, Vascular/pathology ; Gene Expression Profiling ; Humans ; Klippel-Trenaunay-Weber Syndrome/pathology ; Molecular Sequence Data ; Protein Binding ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Tumor Necrosis Factors ; Umbilical Veins
Czasopismo naukowe
    Wyświetlanie 1-20 z 20

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies