Anwar Baban

Anwar Baban

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Anwar Baban

Anwar Baban

Publications by authors named "Anwar Baban"

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An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Circulation 2020 Feb 16;141(6):429-439. Epub 2020 Jan 16.

Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (M.B., J.R.G., M.J.A.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.043114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035205PMC
February 2020

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

Clin Genet 2019 Dec 22;96(6):549-559. Epub 2019 Oct 22.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany.

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http://dx.doi.org/10.1111/cge.13645DOI Listing
December 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

Am J Med Genet A 2019 Aug 30;179(8):1615-1621. Epub 2019 May 30.

Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61217DOI Listing
August 2019

Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.

Acta Derm Venereol 2019 Jul;99(9):831-832

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Via dei Monti di Creta, 104, IT-00167 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3216DOI Listing
July 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Hidden Complexity in Routine Adult and Pediatric Arrhythmias Interpretation: The Future of Precision Electrocardiology.

Card Electrophysiol Clin 2019 06;11(2):391-404

Arrhythmology Unit, Cardiology Department, Foligno General Hospital, Via Massimo Arcamone, Foligno, Perugia 06034, Italy; Cardiovascular Disease Department, University of Perugia, Piazza Menghini 1, Perugia 06129, Italy.

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http://dx.doi.org/10.1016/j.ccep.2019.03.001DOI Listing
June 2019

Heart rate reduction strategy using ivabradine in end-stage Duchenne cardiomyopathy.

Int J Cardiol 2019 04 17;280:99-103. Epub 2019 Jan 17.

Department of Pediatric Cardiology and Cardiac Surgery, Cardiology Unit, Bambino Gesù Hospital & Research Institute, Rome, Italy.

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http://dx.doi.org/10.1016/j.ijcard.2019.01.052DOI Listing
April 2019

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Am J Med Genet A 2019 01 18;179(1):104-112. Epub 2018 Dec 18.

Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.10
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http://dx.doi.org/10.1002/ajmg.a.10DOI Listing
January 2019

Bradyarrhythmias in Repaired Atrioventricular Septal Defects: Single-Center Experience Based on 34 Years of Follow-Up of 522 Patients.

Pediatr Cardiol 2018 Dec 13;39(8):1590-1597. Epub 2018 Jun 13.

Pediatric Cardiology and Cardiac Arrhythmia Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Piazza Sant'Onofrio, 4, 00050, Rome, Italy.

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http://link.springer.com/10.1007/s00246-018-1934-4
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http://dx.doi.org/10.1007/s00246-018-1934-4DOI Listing
December 2018

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

BMC Med Genet 2018 09 15;19(1):170. Epub 2018 Sep 15.

Mechanical Assistance Device and Artificial Heart Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0661-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139163PMC
September 2018

Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

Expert Rev Clin Pharmacol 2018 Jul 19;11(7):689-703. Epub 2018 Jul 19.

b Division of Medical Genetics , IRCCS-Casa Sollievo della Sofferenza , San Giovanni Rotondo , FG , Italy.

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https://www.tandfonline.com/doi/full/10.1080/17512433.2018.1
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http://dx.doi.org/10.1080/17512433.2018.1497973DOI Listing
July 2018

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

Heart Fail Clin 2018 Apr;14(2):225-235

Pediatric Cardiology, Department of Pediatrics, Sapienza University, Viale Regina Elena 324, Rome 00161, Italy.

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http://dx.doi.org/10.1016/j.hfc.2017.12.005DOI Listing
April 2018

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Am J Med Genet A 2017 Nov 8;173(11):2912-2922. Epub 2017 Sep 8.

Medical Genetics Unit, Medical Genetics Laboratory, Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38417DOI Listing
November 2017

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.

Expert Rev Mol Diagn 2017 09 3;17(9):861-870. Epub 2017 Aug 3.

b Department of Pediatrics , Sapienza University , Rome , Italy.

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http://dx.doi.org/10.1080/14737159.2017.1360766DOI Listing
September 2017

Heterotaxy syndrome with and without spleen: Different infection risk and management.

J Allergy Clin Immunol 2017 06 15;139(6):1981-1984.e1. Epub 2016 Nov 15.

B cell Physiopathology Unit, Immunology Research Area, Bambino Gesù Children Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.jaci.2016.10.014DOI Listing
June 2017

Congenital heart defects in Noonan syndrome and RIT1 mutation.

Genet Med 2016 12 29;18(12):1320. Epub 2016 Sep 29.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/gim.2016.137DOI Listing
December 2016

Gershoni-Baruch syndrome: First report of a surviving child.

Am J Med Genet A 2016 Mar 6;170(3):707-11. Epub 2015 Dec 6.

Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37480DOI Listing
March 2016

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

Am J Med Genet A 2016 Mar 21;170(3):665-9. Epub 2015 Dec 21.

Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37505DOI Listing
March 2016

Cardiovascular malformations in Adams-Oliver syndrome.

Am J Med Genet A 2015 May;167A(5):1175-7

Medical Genetics and Pediatric Cardiology, Bambino Gesu, Pediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36764DOI Listing
May 2015

Hypoplastic left heart syndrome and 21q22.3 deletion.

Am J Med Genet A 2015 Mar 7;167A(3):579-86. Epub 2015 Feb 7.

Cytogenetics and Molecular Genetics, Medical Genetics and Pediatric Cardiology, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36914DOI Listing
March 2015

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.

Am J Med Genet A 2014 Jun 24;164A(6):1419-24. Epub 2014 Mar 24.

Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36459DOI Listing
June 2014

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

BMC Med Genet 2014 May 2;15:51. Epub 2014 May 2.

Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain.

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http://dx.doi.org/10.1186/1471-2350-15-51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022398PMC
May 2014

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Eur J Med Genet 2013 Mar 25;56(3):144-9. Epub 2012 Dec 25.

Medical Genetics, Cytogenetics and Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.004DOI Listing
March 2013

Atrioventricular canal defect in patients with RASopathies.

Eur J Hum Genet 2013 Feb 11;21(2):200-4. Epub 2012 Jul 11.

Department of Medical Genetics, Cytogenetics, Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Piazza S. Onofrio 4, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548264PMC
February 2013

Hand and upper limb anomalies in Poland syndrome: a new proposal of classification.

J Pediatr Orthop 2012 Oct-Nov;32(7):727-31

Microsurgery and Hand Surgery Unit-Orthopaedics and Traumatology Department, G. Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1097/BPO.0b013e318269c898DOI Listing
February 2013

Familial Poland anomaly revisited.

Am J Med Genet A 2012 Jan 22;158A(1):140-9. Epub 2011 Nov 22.

Cardiology and Cardiosurgical Department, Bambino Gesù Pediatric Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34370DOI Listing
January 2012

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.

Am J Med Genet A 2011 Sep 3;155A(9):2196-202. Epub 2011 Aug 3.

Medical Genetics and Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34131DOI Listing
September 2011

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome.

Am J Med Genet A 2008 Feb;146A(3):384-8

Laboratory of Molecular Genetics, G. Gaslini Hospital, Genova, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32111DOI Listing
February 2008