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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
Pokaż więcej
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 :
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
Pokaż więcej
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
Pokaż więcej
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
Pokaż więcej
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
Pokaż więcej
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 :
GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour.
Autorzy :
Pan L; Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, Pennsylvania, USA. />McKain BW
Madan-Khetarpal S
Mcguire M
Diler RS
Perel JM
Vockley J
Brent DA
Pokaż więcej
Źródło :
BMJ case reports [BMJ Case Rep] 2011 Jun 09; Vol. 2011. Date of Electronic Publication: 2011 Jun 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Suicidal Ideation*
5-Hydroxytryptophan/*therapeutic use
Antidepressive Agents, Second-Generation/*therapeutic use
Biopterin/*analogs & derivatives
Depressive Disorder, Major/*drug therapy
GTP Cyclohydrolase/*deficiency
Adolescent ; Biopterin/therapeutic use ; Depressive Disorder, Major/enzymology ; Depressive Disorder, Major/etiology ; Humans ; Male
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
Pokaż więcej
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
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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 :
Clear cell sarcoma of the kidney in a child with Fanconi anemia.
Autorzy :
Trejo Bittar HE; 1  Division of Pediatric Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Radder JE
Ranganathan S
Srinivasan A
Madan-Khetarpal S
Reyes-Múgica M
Pokaż więcej
Źródło :
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2014 Jul-Aug; Vol. 17 (4), pp. 297-301. Date of Electronic Publication: 2014 Apr 15.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Fanconi Anemia/*complications
Kidney Neoplasms/*etiology
Sarcoma, Clear Cell/*etiology
Adult ; Biopsy ; Chemotherapy, Adjuvant ; Fatal Outcome ; Humans ; Kidney Neoplasms/pathology ; Kidney Neoplasms/therapy ; Magnetic Resonance Imaging ; Male ; Neoplasm Recurrence, Local ; Nephrectomy ; Risk Factors ; Sarcoma, Clear Cell/pathology ; Sarcoma, Clear Cell/therapy ; Treatment Failure
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: .
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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
Tytuł :
Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.
Autorzy :
Beck M; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.
Peterson JF
McConnell J
McGuire M
Asato M
Losee JE
Surti U
Madan-Khetarpal S
Rajkovic A
Yatsenko SA
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 May; Vol. 167A (5), pp. 1047-53. Date of Electronic Publication: 2015 Mar 21.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cleft Palate/*genetics
Craniofacial Abnormalities/*genetics
Developmental Disabilities/*genetics
Tumor Suppressor Proteins/*genetics
Adult ; Animals ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics ; Cleft Palate/physiopathology ; Craniofacial Abnormalities/physiopathology ; Developmental Disabilities/physiopathology ; Female ; Humans ; Infant ; Male ; Mice ; Neurofibromin 2/genetics ; Pedigree ; Trans-Activators
Czasopismo naukowe
Tytuł :
Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.
Autorzy :
Su CT; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, 130 DeSoto Street, Crabtree Hall A300, Pittsburgh, PA 15261, USA.
Huang JW; Division of Nephrology, Department of Internal Medicine, National Taiwan University Medical College and Hospital, Taipei 100, Taiwan.
Chiang CK; Division of Nephrology, Department of Internal Medicine, National Taiwan University Medical College and Hospital, Taipei 100, Taiwan.
Lawrence EC; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, 130 DeSoto Street, Crabtree Hall A300, Pittsburgh, PA 15261, USA.
Levine KL; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, 130 DeSoto Street, Crabtree Hall A300, Pittsburgh, PA 15261, USA.
Dabovic B; Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA.
Jung C; Practice of Human Genetics, Karlsruhe 76133, Germany, Synlab MVZ Human Genetics, Mannheim 68163, Germany.
Davis EC; Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 2B2, Canada and.
Madan-Khetarpal S; Division of Medical Genetics, Children's Hospital of Pittsburgh of UMPC, Pittsburgh, PA 15224, USA.
Urban Z; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, 130 DeSoto Street, Crabtree Hall A300, Pittsburgh, PA 15261, USA, .
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Źródło :
Human molecular genetics [Hum Mol Genet] 2015 Jul 15; Vol. 24 (14), pp. 4024-36. Date of Electronic Publication: 2015 Apr 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Cutis Laxa/*genetics
Latent TGF-beta Binding Proteins/*metabolism
Protein Serine-Threonine Kinases/*metabolism
Receptors, Transforming Growth Factor beta/*metabolism
Animals ; Case-Control Studies ; Cells, Cultured ; Disease Models, Animal ; Down-Regulation ; Endocytosis/genetics ; Female ; Fibroblasts/cytology ; Fibroblasts/metabolism ; Humans ; Immunoprecipitation ; Latent TGF-beta Binding Proteins/genetics ; Male ; Mice ; Mice, Knockout ; Mutation ; Phosphorylation ; Protein Serine-Threonine Kinases/genetics ; Receptor, Transforming Growth Factor-beta Type I ; Receptor, Transforming Growth Factor-beta Type II ; Receptors, Transforming Growth Factor beta/genetics ; Signal Transduction ; Smad2 Protein/genetics ; Smad2 Protein/metabolism
SCR Disease Name :
Cutis Laxa, Autosomal Recessive, Type I
Czasopismo naukowe
Tytuł :
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.
Autorzy :
Hu J; Pittsburgh Cytogenetics Laboratory, Magee- Womens Hospital of UPMC, Pittsburgh, Pennsylvania.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Sathanoori M; Pittsburgh Cytogenetics Laboratory, Magee- Womens Hospital of UPMC, Pittsburgh, Pennsylvania.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Kochmar S; Pittsburgh Cytogenetics Laboratory, Magee- Womens Hospital of UPMC, Pittsburgh, Pennsylvania.
Azage M; Department of Pediatrics, University of Pittsburgh School of Medicine and Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Mann S; Pittsburgh Cytogenetics Laboratory, Magee- Womens Hospital of UPMC, Pittsburgh, Pennsylvania.
Madan-Khetarpal S; Department of Pediatrics, University of Pittsburgh School of Medicine and Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Goldstein A; Department of Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Surti U; Pittsburgh Cytogenetics Laboratory, Magee- Womens Hospital of UPMC, Pittsburgh, Pennsylvania.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Aug; Vol. 167A (8), pp. 1921-6. Date of Electronic Publication: 2015 Apr 10.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 14*
Chromosomes, Human, Pair 8*
DNA Copy Number Variations*
Genomic Imprinting*
Neurodevelopmental Disorders/*genetics
Child ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Pregnancy
Czasopismo naukowe
Tytuł :
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
Autorzy :
Li Y; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Garrod AS; Division of Pulmonary Medicine, Allergy & Immunology, Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Madan-Khetarpal S; Division of Medical Genetics, Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Sreedher G; Division of Medical Genetics, Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
McGuire M; Division of Medical Genetics, Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.; Department of Medical Genetics, Baylor College of Medicine, Houston, Texas.
Yagi H; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Klena NT; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Gabriel GC; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Khalifa O
Zahid M; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Panigrahy A; Department of Pediatric Radiology, Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Weiner DJ; Division of Pulmonary Medicine, Allergy & Immunology, Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Lo CW; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Sep; Vol. 167A (9), pp. 2188-96. Date of Electronic Publication: 2015 Apr 25.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Bone and Bones/*abnormalities
Cilia/*genetics
Craniosynostoses/*genetics
Ectodermal Dysplasia/*genetics
Respiratory Tract Diseases/*genetics
Child ; Cytoskeletal Proteins ; Hedgehog Proteins ; Heterozygote ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Mutation/genetics ; Proteins/genetics
SCR Disease Name :
Cranioectodermal Dysplasia
Czasopismo naukowe
Tytuł :
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Autorzy :
Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.
Dharmadhikari AV; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA.
Akdemir KC; Genomic Medicine Department, MD Anderson Cancer Center, Houston, TX, USA.
Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Schuette J; Division of Pediatric Anesthesia and Critical Care Medicine, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Godiwala N; Division of Critical Care Medicine, Children's National Health System, Washington, DC, USA.
Yatsenko SA; Department of Obstetrics, Gynecology, and Reproductive Sciences, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Sebastian J; Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Madan-Khetarpal S; Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Surti U; Department of Obstetrics, Gynecology, and Reproductive Sciences, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Abellar RG; Department of Pathology, Columbia University Medical Center, New York, NY, USA.
Bateman DA; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Wilson AL; Children's Hospital of New York-Presbyterian, New York, NY, USA.
Markham MH; Division of Neonatology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Slamon J; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA.
Santos-Simarro F; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Palomares M; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Nevado J; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Lapunzina P; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Chung BH; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.; Department of Obstetrics and Gynaecology, and Centre for Genomic Sciences, The University of Hong Kong, Hong Kong, China.
Wong WL; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
Chu YWY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
Mok GTK; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
Kerem E; Pediatric Pulmonary Unit, Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Reiter J; Pediatric Pulmonary Unit, Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Ambalavanan N; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Cell Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, AL, USA.
Anderson SA; Division of Pediatric Surgery, Department of Surgery, University of Alabama at Birmingham and Children's of Alabama, Birmingham, AL, USA.
Kelly DR; Department of Pathology, University of Alabama at Birmingham and Pathology and Laboratory Medicine Service, Children's of Alabama, Birmingham, AL, USA.
Shieh J; Division of Medical Genetics, Department of Pediatrics, and Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Rosenthal TC; Genetics Department, Kaiser Permanente San Jose Medical Center, San Jose, CA, USA.
Scheible K; Division of Neonatology, Department of Pediatrics, University of Rochester, Rochester, NY, USA.
Steiner L; Division of Neonatology, Department of Pediatrics, University of Rochester, Rochester, NY, USA.
Iqbal MA; Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.
McKinnon ML; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Hamilton SJ; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Schlade-Bartusiak K; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
English D; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Hendson G; Department of Pathology, University of British Columbia, Vancouver, Canada.
Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA.
DeNapoli TS; Department of Pathology, Children's Hospital of San Antonio, San Antonio, TX, USA.
Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.
Wolff DJ; Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA.
Wagner CL; Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA.
Yeung A; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, VIC, Australia.
Francis D; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, VIC, Australia.
Fiorino EK; Division of Pediatric Pulmonary Medicine, The Children's Heart Center Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Edelman M; Division of Pediatric Pathology, The Children's Heart Center Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Fox J; Division of Medical Genetics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Hayes DA; Pediatric Cardiology, The Children's Heart Center Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Janssens S; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
De Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
Menten B; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
Loccufier A; Department of Obstetrics, Gynaecology, and Fertility, AZ St Jan Brugge, Brugge, Belgium.
Vanwalleghem L; Department of Anatomopathology, AZ St Jan Brugge, Brugge, Belgium.
Moerman P; Department of Pathology, UZ Leuven, Louvain, Belgium.
Sznajer Y; Center for Human Genetics, Cliniques Universitaires St-Luc, Universite Catholique de Louvain, Brussels, Belgium.
Lay AS; Division of Pediatric Cardiology, Children's Mercy Hospital, Kansas City, MS, USA.
Kussmann JL; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MS, USA.
Chawla J; Division of Paediatric Respiratory and Sleep Medicine, Lady Cilento Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.; The University of Queensland, Brisbane, QLD, Australia.
Payton DJ; Division of Anatomical Pathology, Lady Cilento Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.; Pathology Queensland, Brisbane, QLD, Australia.
Phillips GE; Division of Anatomical Pathology, Lady Cilento Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.; Pathology Queensland, Brisbane, QLD, Australia.
Brosens E; Clinical Genetics Department, Erasmus MC-Sophia, Rotterdam, The Netherlands.; Paediatric Surgery, Erasmus MC-Sophia, Rotterdam, The Netherlands.
Tibboel D; Paediatric Surgery, Erasmus MC-Sophia, Rotterdam, The Netherlands.
de Klein A; Clinical Genetics Department, Erasmus MC-Sophia, Rotterdam, The Netherlands.
Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Fisher R; James Cook University Hospital, Middlesborough, UK.
Sebire N; Department of Paediatric Histopathology, Great Ormond Street Hospital for Children and UCL Institute of Child Health, London, UK.
Male A; Clinical Genetics Unit, Great Ormond Street Hospital for Children and UCL Institute of Child Health, London, UK.
Chopra M; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Pinner J; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Malcolm G; Department of Newborn Care, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Peters G; Cytogenetics Department, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Arbuckle S; Histopathology Department, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Lees M; Clinical Genetics Unit, Great Ormond Street Hospital for Children and UCL Institute of Child Health, London, UK.
Mead Z; Department of Histopathology, Addenbrooke's NHS Trust Pathology Department, Addenbrooke's Hospital, Cambridge, UK.
Quarrell O; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
Sayers R; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
Owens M; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Shaw-Smith C; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Lioy J; Division of Neonatology, The Children's Hospital of Philadelphia, The University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
McKay E; Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Spruijt L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Elmslie F; South West Thames Regional Genetics Service, St George's University Hospital, London, UK.
Thiruchelvam T; Critical Care and Cardiorespiratory Unit, Great Ormond Street Hospital NHS Trust, London, UK.
Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, USA.
Langston C; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Sen P; Department of Pediatrics, Northwestern University, Chicago, IL, 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, Rm. R809, Houston, TX, 77030, USA. .; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA. .; Institute of Mother and Child, Warsaw, Poland. .
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Źródło :
Human genetics [Hum Genet] 2016 May; Vol. 135 (5), pp. 569-586. Date of Electronic Publication: 2016 Apr 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Genomic Imprinting*
Persistent Fetal Circulation Syndrome/*pathology
Pulmonary Alveoli/*abnormalities
Pulmonary Veins/*pathology
Chromosomes, Human, Pair 16/genetics ; Comparative Genomic Hybridization ; Female ; Forkhead Transcription Factors/genetics ; Genes, Lethal ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Male ; Pedigree ; Persistent Fetal Circulation Syndrome/genetics ; Pulmonary Alveoli/pathology ; Sequence Deletion
SCR Disease Name :
Alveolar capillary dysplasia
Czasopismo naukowe
Tytuł :
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
Autorzy :
Tas E; Pediatric Endocrinology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Sebastian J; Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Madan-Khetarpal S; Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Sweet P; Kenneth P. Dietrich School of Arts and Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania.
Yatsenko AN; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania.; Magee-Womens Research Institute, Pittsburgh, Pennsylvania.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Pollock N; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania.; Magee-Womens Research Institute, Pittsburgh, Pennsylvania.
Rajkovic A; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania.; Magee-Womens Research Institute, Pittsburgh, Pennsylvania.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.
Schneck FX; Pediatric Urology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Yatsenko SA; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.
Witchel SF; Pediatric Endocrinology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Jan; Vol. 173 (1), pp. 221-224. Date of Electronic Publication: 2016 Sep 20.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Genetic Association Studies*
Phenotype*
Sequence Deletion*
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Foot Deformities, Congenital/*diagnosis
Foot Deformities, Congenital/*genetics
Hand Deformities, Congenital/*diagnosis
Hand Deformities, Congenital/*genetics
Homeodomain Proteins/*genetics
Urogenital Abnormalities/*diagnosis
Urogenital Abnormalities/*genetics
Chromosomes, Human, Pair 7 ; Comparative Genomic Hybridization ; Humans ; Infant ; Male ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Polymorphism, Single Nucleotide
SCR Disease Name :
Hand foot uterus syndrome
Czasopismo naukowe
Tytuł :
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
Autorzy :
Chen W; Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Shieh C; David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA.
Swanger SA; Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
Tankovic A; Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
Au M; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Tagliati M; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Graham JM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Madan-Khetarpal S; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Traynelis SF; Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, USA.
Yuan H; Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, USA.
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
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Źródło :
Journal of human genetics [J Hum Genet] 2017 Jun; Vol. 62 (6), pp. 589-597. Date of Electronic Publication: 2017 Feb 23.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Intellectual Disability/*genetics
Nerve Tissue Proteins/*genetics
Receptors, N-Methyl-D-Aspartate/*genetics
Adult ; Cell Membrane/genetics ; Cell Membrane/metabolism ; Child ; Female ; Glycine/genetics ; Humans ; Intellectual Disability/pathology ; Male ; Mutation ; Neurons/metabolism ; Neurons/pathology ; Protein Transport/genetics ; Recombinant Proteins/genetics
Czasopismo naukowe
Tytuł :
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Autorzy :
Hu J; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
Ou Z; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Infante E; Department of Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA.
Kochmar SJ; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Madan-Khetarpal S; Department of Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA.
Hoffner L; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
Parsazad S; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Surti U; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
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Źródło :
Molecular cytogenetics [Mol Cytogenet] 2017 Jun 19; Vol. 10, pp. 24. Date of Electronic Publication: 2017 Jun 19 (Print Publication: 2017).
Typ publikacji :
Case Reports
Raport

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