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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
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
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:
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:
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
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:
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:
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.
Pokaż więcej
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.
Pokaż więcej
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.
Gambin, T.
Dharmadhikari, A.V.
Akdemir, K.C.
Jhangiani, S.N.
Schuette, J.
Godiwala, N.
Yatsenko, S.A.
Sebastian, J.
Madan-Khetarpal, S.
Surti, U.
Abellar, R.G.
Bateman, D.A.
Wilson, A.L.
Markham, M.H.
Slamon, J.
Santos-Simarro, F.
Palomares, M.
Nevado, J.
Lapunzina, P.
Chung, B.H.
Wong, W.L.
Chu, Y.W.
Mok, G.T.
Kerem, E.
Reiter, J.
Ambalavanan, N.
Anderson, S.A.
Kelly, D.R.
Shieh, J.
Rosenthal, T.C.
Scheible, K.
Steiner, L.
Iqbal, M.A.
McKinnon, M.L.
Hamilton, S.J.
Schlade-Bartusiak, K.
English, D.
Hendson, G.
Roeder, E.R.
DeNapoli, T.S.
Littlejohn, R.O.
Wolff, D.J.
Wagner, C.L.
Yeung, A.
Francis, D.
Fiorino, E.K.
Edelman, M.
Fox, J.
Hayes, D.A.
Janssens, S.
De Baere, E.
Menten, B.
Loccufier, A.
Vanwalleghem, L.
Moerman, P.
Sznajer, Y.
Lay, A.S.
Kussmann, J.L.
Chawla, J.
Payton, D.J.
Phillips, G.E.
Brosens, E.
Tibboel, D.
Klein, A.
Maystadt, I.
Fisher, R.
Sebire, N.
Male, A.
Chopra, M.
Pinner, J.
Malcolm, G.
Peters, G.
Arbuckle, S.
Lees, M.
Mead, Z.
Quarrell, O.
Sayers, R.
Owens, M.
Shaw-Smith, C.
Lioy, J.
McKay, E.
de Leeuw, N.
Feenstra, I.
Spruijt, L.
Elmslie, F.
Thiruchelvam, T.
Bacino, C.A.
Langston, C.
Lupski, J.R.
Sen, P.
Popek, E.
Stankiewicz, P.
Pokaż więcej
Temat:
Chromosomes, Human, Pair 16
Comparative Genomic Hybridization
Female
Forkhead Transcription Factors
Genes, Lethal
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Male
Pedigree
Persistent Fetal Circulation Syndrome
Pulmonary Alveoli
Pulmonary Veins
Sequence Deletion
Genome, Human
Genomic Imprinting
Article
Genetics(clinical)
Genetics
Chromosome 16
Alveolar capillary dysplasia
medicine.disease
medicine
Uniparental disomy
Exome sequencing
Genomic imprinting
Locus (genetics)
Molecular biology
Copy-number variation
Biology
Sanger sequencing
symbols.namesake
symbols
Źródło:
Human Genetics, 135, 569-586
Opis pliku:
application/pdf
Dostępność:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940199cff9fdefb150d9d6b25e41e0da
https://repositoriosaludmadrid.es/handle/20.500.12530/26871
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:
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
Tytuł:
Infant Botulism in the Very Young Neonate: A Case Series.
Autorzy:
Jackson L; Division of Newborn Medicine, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Naik M; Division of Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Michaels MG; Division of Infectious Disease, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Riley M; Division of Newborn Medicine, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
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Źródło:
AJP reports [AJP Rep] 2017 Jul; Vol. 7 (3), pp. e163-e166. Date of Electronic Publication: 2017 Jul 31.
Typ publikacji:
Case Reports
Raport
Tytuł:
6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.
Autorzy:
Cheng A; Department of Cardiology, University of Washington School of Medicine, Seattle, Washington.
Dinulos MBP; Departments of Pediatrics and Pathology, Section of Medical Genetics, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, New Hampshire.
Neufeld-Kaiser W; Department of Pathology, University of Washington School of Medicine, Seattle, Washington.
Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Kyriss M; Prevention Genetics, Marshfield, Wisconsin.
Madan-Khetarpal S; Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
Risheg H; Laboratory Corporation of America/Dynacare, Seattle, Washington.
Byers PH; Department of Pathology, University of Washington School of Medicine, Seattle, Washington.
Liu YJ; Department of Pathology, University of Washington School of Medicine, Seattle, Washington.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Jul; Vol. 173 (7), pp. 1848-1857. Date of Electronic Publication: 2017 May 02.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Autorzy:
Bostwick BL; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA. .
McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Streff HE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Gripp KW; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Blesson A; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Powell-Hamilton N; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Tusi J; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Stevenson DA; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Farrelly E; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Hummel M; Department of Pediatrics, Section of Medical Genetics, West Virginia University Health Sciences Center, Morgantown, WV, USA.
Madan-Khetarpal S; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
Infante E; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Miszalski-Jamka K; Division of Magnetic Resonance Imaging, Silesian Center for Heart Disease, Zabrze, Poland.
Jefferies JL; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
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Corporate Authors:
Members of the Undiagnosed Diseases Network
Źródło:
Genome medicine [Genome Med] 2017 Aug 14; Vol. 9 (1), pp. 73. Date of Electronic Publication: 2017 Aug 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Mutation*
Phenotype*
CDC2 Protein Kinase/*genetics
Face/*abnormalities
Heart Defects, Congenital/*metabolism
Intellectual Disability/*metabolism
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Syndrome
Czasopismo naukowe

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