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Wyszukujesz frazę ""Madan-Khetarpal S"" wg kryterium: Autor


Tytuł :
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Autorzy :
Ballif BC; Signature Genomic Laboratories, Spokane, Washington 99202, USA.
Hornor SA
Jenkins E
Madan-Khetarpal S
Surti U
Jackson KE
Asamoah A
Brock PL
Gowans GC
Conway RL
Graham JM Jr
Medne L
Zackai EH
Shaikh TH
Geoghegan J
Selzer RR
Eis PS
Bejjani BA
Shaffer LG
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Źródło :
Nature genetics [Nat Genet] 2007 Sep; Vol. 39 (9), pp. 1071-3. Date of Electronic Publication: 2007 Aug 19.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 16/*genetics
Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Disorders/genetics ; Chromosome Disorders/pathology ; Female ; Genome, Human ; Humans ; In Situ Hybridization, Fluorescence ; Nucleic Acid Hybridization/methods ; Syndrome
Czasopismo naukowe
Tytuł :
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
Autorzy :
Friedrich Christopher A
Escobar Luis F
Tervo Raymond
Schmidt Karen R
Madan-Khetarpal Suneeta
Hersh Joseph H
Gowans Gordon C
Coppinger Justine
Theisen Aaron
Ballif Blake C
McDonald Marie
Campbell Lindsey
Ming Jeffrey E
Zackai Elaine H
Bejjani Bassem A
Shaffer Lisa G
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Temat :
Genetics
QH426-470
Źródło :
Molecular Cytogenetics, Vol 1, Iss 1, p 8 (2008)
Opis pliku :
electronic resource
Relacje :
http://www.molecularcytogenetics.org/content/1/1/8; https://doaj.org/toc/1755-8166
Dostęp URL :
https://doaj.org/article/27c0c9de9e19445c841454d5bf643725
Czasopismo naukowe
Tytuł :
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Autorzy :
Ballif BC; Signature Genomic Laboratories, LLC, Spokane, WA, USA. .
Theisen A
Coppinger J
Gowans GC
Hersh JH
Madan-Khetarpal S
Schmidt KR
Tervo R
Escobar LF
Friedrich CA
McDonald M
Campbell L
Ming JE
Zackai EH
Bejjani BA
Shaffer LG
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Źródło :
Molecular cytogenetics [Mol Cytogenet] 2008 Apr 28; Vol. 1, pp. 8. Date of Electronic Publication: 2008 Apr 28.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.
Autorzy :
Madan S; Department of Radiology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
Madan-Khetarpal S
Park SC
Surti U
Bailey AL
McConnell J
Tadros SS
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2010 May; Vol. 152A (5), pp. 1295-9.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Magnetic Resonance Imaging*
Chromosomes, Human, Pair 22/*genetics
Heart Defects, Congenital/*genetics
Heart Ventricles/*abnormalities
Child, Preschool ; Facies ; Humans ; Male ; Oligonucleotide Array Sequence Analysis ; Young Adult
Czasopismo naukowe
Tytuł :
Erratum: GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour.
Autorzy :
Pan L
McKain BW
Madan-Khetarpal S
McGuire M
Diler RS
Perel JM
Vockley J
Brent DA
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Źródło :
BMJ case reports [BMJ Case Rep] 2011; Vol. 2011, pp. bcr0320113927corr1. Date of Electronic Publication: 2011 Jun 30.
Typ publikacji :
Journal Article; Published Erratum
Czasopismo naukowe
Tytuł :
Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.
Autorzy :
Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Madan-Khetarpal S
Serrano Russi AH
Kochmar S
Deward SJ
Sathanoori M
Surti U
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Źródło :
Genetics research international [Genet Res Int] 2011; Vol. 2011, pp. 185271. Date of Electronic Publication: 2011 Jul 17.
Typ publikacji :
Case Reports
Raport
Tytuł :
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Autorzy :
Tao H; Division of Morphogenesis, National Institute for Basic Biology, 38 Nishigonaka, Myodaiji, Okazaki, Japan.
Manak JR
Sowers L
Mei X
Kiyonari H
Abe T
Dahdaleh NS
Yang T
Wu S
Chen S
Fox MH
Gurnett C
Montine T
Bird T
Shaffer LG
Rosenfeld JA
McConnell J
Madan-Khetarpal S
Berry-Kravis E
Griesbach H
Saneto RP
Scott MP
Antic D
Reed J
Boland R
Ehaideb SN
El-Shanti H
Mahajan VB
Ferguson PJ
Axelrod JD
Lehesjoki AE
Fritzsch B
Slusarski DC
Wemmie J
Ueno N
Bassuk AG
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2011 Feb 11; Vol. 88 (2), pp. 138-49. Date of Electronic Publication: 2011 Feb 03.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Carrier Proteins/*genetics
DNA-Binding Proteins/*genetics
Drosophila Proteins/*genetics
Mutation/*genetics
Nerve Tissue Proteins/*genetics
Seizures/*etiology
Tumor Suppressor Proteins/*genetics
Zebrafish Proteins/*genetics
Adaptor Proteins, Signal Transducing ; Animals ; Blotting, Western ; Brain/metabolism ; Calcium/metabolism ; Drosophila melanogaster/genetics ; Embryo, Nonmammalian/cytology ; Embryo, Nonmammalian/metabolism ; Epilepsies, Myoclonic/genetics ; Female ; Heterozygote ; Humans ; Immunoenzyme Techniques ; In Situ Hybridization ; LIM Domain Proteins ; Male ; Mice ; Mice, Knockout ; Phenotype ; RNA, Messenger/genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Seizures/metabolism ; Zebrafish/genetics
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
Autorzy :
Cajaiba MM; Department of Pathology, University of Pittsburgh Medical Center, Pennsylvania, USA.
Witchel S
Madan-Khetarpal S
Hoover J
Hoffner L
Macpherson T
Surti U
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2011 Aug; Vol. 155A (8), pp. 1996-2002. Date of Electronic Publication: 2011 Jul 07.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Amniocentesis*
Chromosomes, Human, Pair 6*
Placenta/*abnormalities
Trisomy/*diagnosis
Uniparental Disomy/*diagnosis
Abnormalities, Multiple/genetics ; Adult ; Craniofacial Abnormalities/genetics ; Female ; Humans ; Hyperglycemia/drug therapy ; Infant ; Infant, Newborn ; Insulin/therapeutic use ; Loss of Heterozygosity ; Metabolism, Inborn Errors/drug therapy ; Polymorphism, Single Nucleotide ; Pregnancy ; Resuscitation
Czasopismo naukowe
Tytuł :
A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.
Autorzy :
Liao J; Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
DeWard SJ
Madan-Khetarpal S
Surti U
Hu J
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2011 Nov; Vol. 155A (11), pp. 2795-800. Date of Electronic Publication: 2011 Oct 11.
Typ publikacji :
Case Reports; Comparative Study; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 15/*genetics
Intellectual Disability/*genetics
Receptors, Nicotinic/*genetics
Child ; Child, Preschool ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Electroencephalography ; Female ; Homozygote ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intellectual Disability/pathology ; Muscle Hypotonia/genetics ; Muscle Hypotonia/pathology ; Phenotype ; Seizures/genetics ; Seizures/pathology ; alpha7 Nicotinic Acetylcholine Receptor
Czasopismo naukowe
Tytuł :
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Autorzy :
Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. />Kulkarni S
Dharmadhikari AV
Sampath S
Bhatt SS
Shaikh TH
Xia Z
Pursley AN
Cooper ML
Shinawi M
Paciorkowski AR
Grange DK
Noetzel MJ
Saunders S
Simons P
Summar M
Lee B
Scaglia F
Fellmann F
Martinet D
Beckmann JS
Asamoah A
Platky K
Sparks S
Martin AS
Madan-Khetarpal S
Hoover J
Medne L
Bonnemann CG
Moeschler JB
Vallee SE
Parikh S
Irwin P
Dalzell VP
Smith WE
Banks VC
Flannery DB
Lovell CM
Bellus GA
Golden-Grant K
Gorski JL
Kussmann JL
McGregor TL
Hamid R
Pfotenhauer J
Ballif BC
Shaw CA
Kang SH
Bacino CA
Patel A
Rosenfeld JA
Cheung SW
Shaffer LG
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2012 Jan; Vol. 33 (1), pp. 165-79. Date of Electronic Publication: 2011 Nov 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Sequence Deletion*
Abnormalities, Multiple/*genetics
Nerve Growth Factors/*genetics
Segmental Duplications, Genomic/*genetics
Vesicular Acetylcholine Transport Proteins/*genetics
Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 10 ; DNA Copy Number Variations ; Developmental Disabilities/complications ; Developmental Disabilities/genetics ; Female ; Genetic Variation ; Homologous Recombination ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Male ; Oligonucleotide Array Sequence Analysis ; Penetrance
Czasopismo naukowe
Tytuł :
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Autorzy :
Lamb AN; Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington 99207, USA.
Rosenfeld JA
Neill NJ
Talkowski ME
Blumenthal I
Girirajan S
Keelean-Fuller D
Fan Z
Pouncey J
Stevens C
Mackay-Loder L
Terespolsky D
Bader PI
Rosenbaum K
Vallee SE
Moeschler JB
Ladda R
Sell S
Martin J
Ryan S
Jones MC
Moran R
Shealy A
Madan-Khetarpal S
McConnell J
Surti U
Delahaye A
Heron-Longe B
Pipiras E
Benzacken B
Passemard S
Verloes A
Isidor B
Le Caignec C
Glew GM
Opheim KE
Descartes M
Eichler EE
Morton CC
Gusella JF
Schultz RA
Ballif BC
Shaffer LG
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2012 Apr; Vol. 33 (4), pp. 728-40.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Haploinsufficiency*
Body Dysmorphic Disorders/*genetics
Developmental Disabilities/*genetics
Language Development Disorders/*genetics
Mental Disorders/*genetics
SOXD Transcription Factors/*genetics
Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Chromosomes, Human, Pair 12 ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.
Autorzy :
Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA. />Sathanoori M
Kochmar S
Madan-Khetarpal S
McGuire M
Surti U
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2013 Jan; Vol. 161A (1), pp. 179-84. Date of Electronic Publication: 2012 Dec 07.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 11/*genetics
Chromosomes, Human, Pair 4/*genetics
Silver-Russell Syndrome/*genetics
Chromosome Deletion ; Chromosomes, Human, Pair 9/genetics ; Cleft Palate/genetics ; Comparative Genomic Hybridization ; Female ; Gene Duplication ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Microarray Analysis ; Phenotype ; Silver-Russell Syndrome/diagnosis ; Translocation, Genetic ; Young Adult
SCR Disease Name :
Chromosome 9p Deletion Syndrome
Czasopismo naukowe
Tytuł :
Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
Autorzy :
Peterson JF
Ghaloul-Gonzalez L
Madan-Khetarpal S
Hartman J
Surti U
Rajkovic A
Yatsenko SA
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Feb; Vol. 164A (2), pp. 364-9.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Duplication*
Chromosomes, Human, Pair 17*
Penetrance*
Clubfoot/*genetics
T-Box Domain Proteins/*genetics
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Clubfoot/diagnosis ; Comparative Genomic Hybridization ; Female ; Humans ; Infant, Newborn ; Male ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Biomechanical properties of the skin in cutis laxa.
Autorzy :
Kozel BA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
Su CT; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.
Danback JR; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
Minster RL; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.
Madan-Khetarpal S; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
McConnell JS; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Mac Neal MK; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.
Levine KL; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.
Wilson RC; Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Sciurba FC; Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Urban Z; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA. Electronic address: .
Pokaż więcej
Źródło :
The Journal of investigative dermatology [J Invest Dermatol] 2014 Nov; Vol. 134 (11), pp. 2836-2838. Date of Electronic Publication: 2014 May 20.
Typ publikacji :
Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Cutis Laxa/*physiopathology
Skin/*physiopathology
Adult ; Area Under Curve ; Biomechanical Phenomena ; Case-Control Studies ; Cohort Studies ; Elasticity ; Elastin/genetics ; Female ; Humans ; Latent TGF-beta Binding Proteins/genetics ; Male ; Mutation ; Proton-Translocating ATPases/genetics ; ROC Curve ; Sensitivity and Specificity ; Viscosity
Raport
Tytuł :
Array CGH as a first-tier test for neonates with congenital heart disease.
Autorzy :
Bachman KK; 1Department of Human Genetics,Graduate School of Public Health,Pittsburgh,Pennsylvania,United States of America.
DeWard SJ; 2Department of Pediatrics,School of Medicine, University of Pittsburgh,Pittsburgh,Pennsylvania,United States of America.
Chrysostomou C; 2Department of Pediatrics,School of Medicine, University of Pittsburgh,Pittsburgh,Pennsylvania,United States of America.
Munoz R; 2Department of Pediatrics,School of Medicine, University of Pittsburgh,Pittsburgh,Pennsylvania,United States of America.
Madan-Khetarpal S; 2Department of Pediatrics,School of Medicine, University of Pittsburgh,Pittsburgh,Pennsylvania,United States of America.
Pokaż więcej
Źródło :
Cardiology in the young [Cardiol Young] 2015 Jan; Vol. 25 (1), pp. 115-22. Date of Electronic Publication: 2013 Nov 06.
Typ publikacji :
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization/*methods
Heart Defects, Congenital/*diagnosis
Female ; Follow-Up Studies ; Heart Defects, Congenital/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Male ; Prospective Studies ; Reproducibility of Results ; Retrospective Studies
Czasopismo naukowe

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