Rubinstein-Taybi syndrome in diverse populations.
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| Title: | Rubinstein-Taybi syndrome in diverse populations. |
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| Authors: | Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Owosela B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Fleischer N; FDNA Inc., Boston, Massachusetts, USA., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Malonga B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Badoe E; Department of Child Health, School of Medicine and Dentistry, College of Health Sciences, Accra, Ghana., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Hussen DF; Cytogenetic Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Luk HM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Lo IFM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Hon-Yin Chung B; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Batista LC; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Lotz-Esquivel S; Rare and Orphan Disease Multidisciplinary Clinic, Hospital San Juan de Dios (CCSS), San José, Costa Rica., Saborio-Rocafort M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica., Badilla-Porras R; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica., Penon Portmann M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.; Division of Medical Genetics, Department of Pediatrics & Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Abdul-Rahman OA; Munroe-Meyer institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA., Uwineza A; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Ifeorah IK; Nigerian Air Force Hospital, Nigerian Air Force, Abuja, Nigeria., Llamos Paneque A; Medical Genetics Service, Specialty Hospital of the Armed Forces No. 1, International University of Ecuador, Sciences of Life Faculty, School of Dentistry, Quito, Ecuador., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dowsett L; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA., Lee S; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Kitchin CS; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Diaz-Kuan A; Instituto de Medicina Genética, Santiago de Surco, Lima, Peru., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Mutesa L; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., El Ruby MO; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Ekure EN; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria., Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2020 Dec; Vol. 182 (12), pp. 2939-2950. Date of Electronic Publication: 2020 Sep 27. |
| Publication Type: | Journal Article; Research Support, N.I.H., Intramural |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32985117 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Rubinstein-Taybi syndrome in diverse populations. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Tekendo-Ngongang+C%22">Tekendo-Ngongang C</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Owosela+B%22">Owosela B</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Fleischer+N%22">Fleischer N</searchLink>; FDNA Inc., Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Addissie+YA%22">Addissie YA</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Malonga+B%22">Malonga B</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Badoe+E%22">Badoe E</searchLink>; Department of Child Health, School of Medicine and Dentistry, College of Health Sciences, Accra, Ghana.<br /><searchLink fieldCode="AU" term="%22Gupta+N%22">Gupta N</searchLink>; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Moresco+A%22">Moresco A</searchLink>; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Huckstadt+V%22">Huckstadt V</searchLink>; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Ashaat+EA%22">Ashaat EA</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Hussen+DF%22">Hussen DF</searchLink>; Cytogenetic Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Luk+HM%22">Luk HM</searchLink>; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Lo+IFM%22">Lo IFM</searchLink>; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Hon-Yin+Chung+B%22">Hon-Yin Chung B</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Fung+JLF%22">Fung JLF</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Moretti-Ferreira+D%22">Moretti-Ferreira D</searchLink>; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Batista+LC%22">Batista LC</searchLink>; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Lotz-Esquivel+S%22">Lotz-Esquivel S</searchLink>; Rare and Orphan Disease Multidisciplinary Clinic, Hospital San Juan de Dios (CCSS), San José, Costa Rica.<br /><searchLink fieldCode="AU" term="%22Saborio-Rocafort+M%22">Saborio-Rocafort M</searchLink>; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.<br /><searchLink fieldCode="AU" term="%22Badilla-Porras+R%22">Badilla-Porras R</searchLink>; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.<br /><searchLink fieldCode="AU" term="%22Penon+Portmann+M%22">Penon Portmann M</searchLink>; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.; Division of Medical Genetics, Department of Pediatrics & Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.<br /><searchLink fieldCode="AU" term="%22Jones+KL%22">Jones KL</searchLink>; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Abdul-Rahman+OA%22">Abdul-Rahman OA</searchLink>; Munroe-Meyer institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.<br /><searchLink fieldCode="AU" term="%22Uwineza+A%22">Uwineza A</searchLink>; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.<br /><searchLink fieldCode="AU" term="%22Prijoles+EJ%22">Prijoles EJ</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Ifeorah+IK%22">Ifeorah IK</searchLink>; Nigerian Air Force Hospital, Nigerian Air Force, Abuja, Nigeria.<br /><searchLink fieldCode="AU" term="%22Llamos+Paneque+A%22">Llamos Paneque A</searchLink>; Medical Genetics Service, Specialty Hospital of the Armed Forces No. 1, International University of Ecuador, Sciences of Life Faculty, School of Dentistry, Quito, Ecuador.<br /><searchLink fieldCode="AU" term="%22Sirisena+ND%22">Sirisena ND</searchLink>; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.<br /><searchLink fieldCode="AU" term="%22Dowsett+L%22">Dowsett L</searchLink>; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA.<br /><searchLink fieldCode="AU" term="%22Lee+S%22">Lee S</searchLink>; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA.<br /><searchLink fieldCode="AU" term="%22Cappuccio+G%22">Cappuccio G</searchLink>; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Kitchin+CS%22">Kitchin CS</searchLink>; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.<br /><searchLink fieldCode="AU" term="%22Diaz-Kuan+A%22">Diaz-Kuan A</searchLink>; Instituto de Medicina Genética, Santiago de Surco, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Thong+MK%22">Thong MK</searchLink>; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Obregon+MG%22">Obregon MG</searchLink>; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Mutesa+L%22">Mutesa L</searchLink>; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.<br /><searchLink fieldCode="AU" term="%22Dissanayake+VHW%22">Dissanayake VHW</searchLink>; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.<br /><searchLink fieldCode="AU" term="%22El+Ruby+MO%22">El Ruby MO</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Ekure+EN%22">Ekure EN</searchLink>; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria.<br /><searchLink fieldCode="AU" term="%22Stevenson+RE%22">Stevenson RE</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Muenke+M%22">Muenke M</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Kruszka+P%22">Kruszka P</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2020 Dec; Vol. 182 (12), pp. 2939-2950. <i>Date of Electronic Publication: </i>2020 Sep 27. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Intramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32985117 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.61888 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2939 Titles: – TitleFull: Rubinstein-Taybi syndrome in diverse populations. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Tekendo-Ngongang C – PersonEntity: Name: NameFull: Owosela B – PersonEntity: Name: NameFull: Fleischer N – PersonEntity: Name: NameFull: Addissie YA – PersonEntity: Name: NameFull: Malonga B – PersonEntity: Name: NameFull: Badoe E – PersonEntity: Name: NameFull: Gupta N – PersonEntity: Name: NameFull: Moresco A – PersonEntity: Name: NameFull: Huckstadt V – PersonEntity: Name: NameFull: Ashaat EA – PersonEntity: Name: NameFull: Hussen DF – PersonEntity: Name: NameFull: Luk HM – PersonEntity: Name: NameFull: Lo IFM – PersonEntity: Name: NameFull: Hon-Yin Chung B – PersonEntity: Name: NameFull: Fung JLF – PersonEntity: Name: NameFull: Moretti-Ferreira D – PersonEntity: Name: NameFull: Batista LC – PersonEntity: Name: NameFull: Lotz-Esquivel S – PersonEntity: Name: NameFull: Saborio-Rocafort M – PersonEntity: Name: NameFull: Badilla-Porras R – PersonEntity: Name: NameFull: Penon Portmann M – PersonEntity: Name: NameFull: Jones KL – PersonEntity: Name: NameFull: Abdul-Rahman OA – PersonEntity: Name: NameFull: Uwineza A – PersonEntity: Name: NameFull: Prijoles EJ – PersonEntity: Name: NameFull: Ifeorah IK – PersonEntity: Name: NameFull: Llamos Paneque A – PersonEntity: Name: NameFull: Sirisena ND – PersonEntity: Name: NameFull: Dowsett L – PersonEntity: Name: NameFull: Lee S – PersonEntity: Name: NameFull: Cappuccio G – PersonEntity: Name: NameFull: Kitchin CS – PersonEntity: Name: NameFull: Diaz-Kuan A – PersonEntity: Name: NameFull: Thong MK – PersonEntity: Name: NameFull: Obregon MG – PersonEntity: Name: NameFull: Mutesa L – PersonEntity: Name: NameFull: Dissanayake VHW – PersonEntity: Name: NameFull: El Ruby MO – PersonEntity: Name: NameFull: Brunetti-Pierri N – PersonEntity: Name: NameFull: Ekure EN – PersonEntity: Name: NameFull: Stevenson RE – PersonEntity: Name: NameFull: Muenke M – PersonEntity: Name: NameFull: Kruszka P IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2020 Dec Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 182 – Type: issue Value: 12 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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