Francesco Brancati

Francesco Brancati

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Francesco Brancati

Francesco Brancati

Publications by authors named "Francesco Brancati"

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Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.

Acta Derm Venereol 2019 Aug 13. Epub 2019 Aug 13.

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/10.2340/00015555-3291DOI Listing
August 2019

promoter deletion causes endoactivation and Liebenberg syndrome.

J Med Genet 2019 Apr 2;56(4):246-251. Epub 2019 Feb 2.

Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2018-105793DOI Listing
April 2019

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Eur J Hum Genet 2018 09 11;26(9):1266-1271. Epub 2018 Jun 11.

Division of Nephrology, Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1038/s41431-018-0183-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117343PMC
September 2018

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Am J Med Genet A 2018 09 8;176(9):2028-2033. Epub 2018 Sep 8.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

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http://dx.doi.org/10.1002/ajmg.a.40379DOI Listing
September 2018

A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype.

Cytogenet Genome Res 2017 16;153(1):22-28. Epub 2017 Nov 16.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI) IRCCS, Rome, Italy.

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http://dx.doi.org/10.1159/000481331DOI Listing
January 2018

The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.

Gynecol Endocrinol 2017 Dec 13;33(12):918-922. Epub 2017 Jun 13.

g Department of Life, Health and Environmental Sciences , University of L'Aquila , L'Aquila , Italy.

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http://dx.doi.org/10.1080/09513590.2017.1337097DOI Listing
December 2017

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Brain Dev 2017 Feb 14;39(2):182-183. Epub 2016 Sep 14.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.08.010DOI Listing
February 2017

Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome.

Case Rep Surg 2015 1;2015:916039. Epub 2015 Sep 1.

Thoracic Surgery Division, Tor Vergata University, Viale Oxford 81, 00133 Rome, Italy.

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http://dx.doi.org/10.1155/2015/916039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539463PMC
September 2015

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.

Neuroradiol J 2015 Jun;28(3):289-93

Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Italy Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University, Italy

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http://dx.doi.org/10.1177/1971400915591688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757286PMC
June 2015

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Cell 2015 May 7;161(5):1012-1025. Epub 2015 May 7.

Max Planck Institute for Molecular Genetics, RG Development & Disease, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791538PMC
May 2015

Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages.

Radiol Med 2015 Mar 5;120(3):277-82. Epub 2014 Aug 5.

Department of Radiology, University of Foggia, Viale Luigi Pinto 1, 71100, Foggia, Italy,

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http://dx.doi.org/10.1007/s11547-014-0440-xDOI Listing
March 2015

p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.

Exp Dermatol 2015 Feb;24(2):114-9

CEINGE Biotecnologie Avanzate, Napoli, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Napoli, Italy.

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http://doi.wiley.com/10.1111/exd.12593
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http://dx.doi.org/10.1111/exd.12593DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329386PMC
February 2015

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Hum Genet 2015 Feb 21;134(2):181-90. Epub 2014 Nov 21.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA,

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http://dx.doi.org/10.1007/s00439-014-1509-2DOI Listing
February 2015

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy.

Can J Cardiol 2014 Dec 16;30(12):1649-54. Epub 2014 Sep 16.

Departments of Medicine and Biochemistry, Western University, London, Ontario, Canada; Robarts Research, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cjca.2014.09.007DOI Listing
December 2014

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Am J Hum Genet 2014 Nov 6;95(5):622-32. Epub 2014 Nov 6.

Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225581PMC
November 2014

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

J Invest Dermatol 2014 Aug 27;134(8):2146-2153. Epub 2014 Feb 27.

Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University of Chieti-Pescara, Chieti, Italy; Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153694
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http://dx.doi.org/10.1038/jid.2014.119DOI Listing
August 2014

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Am J Med Genet A 2014 Feb 5;164A(2):528-34. Epub 2013 Dec 5.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.36301
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http://dx.doi.org/10.1002/ajmg.a.36301DOI Listing
February 2014

Clinical utility gene card for: Joubert syndrome--update 2013.

Eur J Hum Genet 2013 Oct 13;21(10). Epub 2013 Feb 13.

1] IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Rome, Italy [2] Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778348PMC
October 2013

The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

Mov Disord 2013 Jun 15;28(6):795-803. Epub 2013 Feb 15.

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25394DOI Listing
June 2013

Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

Am J Med Genet B Neuropsychiatr Genet 2013 Jan 26;162B(1):17-23. Epub 2012 Nov 26.

Department of Neuroscience, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32113DOI Listing
January 2013

Primary focal hyperhidrosis in a new family not linked to known loci.

Dermatology 2011 12;223(4):335-42. Epub 2012 Jan 12.

Neurologia I, IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1159/000334936DOI Listing
July 2012

Clinical utility gene card for: Joubert syndrome.

Eur J Hum Genet 2011 Sep 30;19(9). Epub 2011 Mar 30.

Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1038/ejhg.2011.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179357PMC
September 2011

Joubert Syndrome and related disorders.

Orphanet J Rare Dis 2010 Jul 8;5:20. Epub 2010 Jul 8.

Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-2
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http://dx.doi.org/10.1186/1750-1172-5-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913941PMC
July 2010

A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.

Eur J Med Genet 2009 Nov-Dec;52(6):421-5. Epub 2009 Oct 1.

IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo and CSS-Mendel Institute, Viale Regina Margherita, 261, 00198 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2009.09.008DOI Listing
February 2010

Expanding CEP290 mutational spectrum in ciliopathies.

Authors:
Lorena Travaglini Francesco Brancati Tania Attie-Bitach Sophie Audollent Enrico Bertini Josseline Kaplan Isabelle Perrault Miriam Iannicelli Brunella Mancuso Luciana Rigoli Jean-Michel Rozet Dominika Swistun Jerlyn Tolentino Bruno Dallapiccola Joseph G Gleeson Enza Maria Valente A Zankl R Leventer P Grattan-Smith A Janecke M D'Hooghe Y Sznajer R Van Coster L Demerleir K Dias C Moco A Moreira C Ae Kim G Maegawa D Petkovic G M H Abdel-Salam A Abdel-Aleem M S Zaki I Marti S Quijano-Roy S Sigaudy P de Lonlay S Romano R Touraine M Koenig C Lagier-Tourenne J Messer P Collignon N Wolf H Philippi S Kitsiou Tzeli S Halldorsson J Johannsdottir P Ludvigsson S R Phadke V Udani B Stuart A Magee D Lev M Michelson B Ben-Zeev R Fischetto F Benedicenti F Stanzial R Borgatti P Accorsi S Battaglia E Fazzi L Giordano L Pinelli L Boccone S Bigoni A Ferlini M A Donati G Caridi M T Divizia F Faravelli G Ghiggeri A Pessagno M Briguglio S Briuglia C D Salpietro G Tortorella A Adami P Castorina F Lalatta G Marra D Riva B Scelsa L Spaccini G Uziel E Del Giudice A M Laverda K Ludwig A Permunian A Suppiej S Signorini C Uggetti R Battini M Di Giacomo M R Cilio M L Di Sabato V Leuzzi P Parisi M Pollazzon M Silengo R De Vescovi D Greco C Romano M Cazzagon A Simonati A A Al-Tawari L Bastaki A Mégarbané V Sabolic Avramovska M M de Jong P Stromme R Koul A Rajab M Azam C Barbot L Martorell Sampol B Rodriguez I Pascual-Castroviejo S Teber B Anlar S Comu E Karaca H Kayserili A Yüksel M Akcakus L Al Gazali L Sztriha D Nicholl C G Woods C Bennett J Hurst E Sheridan A Barnicoat R Hennekam M Lees E Blair S Bernes H Sanchez A E Clark E DeMarco C Donahue E Sherr J Hahn T D Sanger T E Gallager W B Dobyns C Daugherty K S Krishnamoorthy D Sarco C A Walsh T McKanna J Milisa W K Chung D C De Vivo H Raynes R Schubert A Seward D G Brooks A Goldstein J Caldwell E Finsecke B L Maria K Holden R P Cruse K J Swoboda D Viskochil

Am J Med Genet A 2009 Oct;149A(10):2173-80

CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340070PMC
October 2009

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.

Am J Med Genet A 2008 Dec;146A(23):3034-7

Academic Department of Medical Genetics, University of Manchester, and Regional Genetics Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.32564DOI Listing
December 2008

Subclinical sensory abnormalities in unaffected PINK1 heterozygotes.

J Neurol 2008 Sep 3;255(9):1372-7. Epub 2008 Jul 3.

Dept. of Neurological and Vision Sciences, Section of Rehabilitative Neurology, University of Verona, Via Casorati 43, 37131, Verona, Italy.

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http://dx.doi.org/10.1007/s00415-008-0923-6DOI Listing
September 2008

Genotypes and phenotypes of Joubert syndrome and related disorders.

Eur J Med Genet 2008 Jan-Feb;51(1):1-23. Epub 2007 Nov 23.

IRCCS CSS-Mendel Institute, Neurogenetics Unit, Viale Regina Margherita 261, 00198 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2007.11.003DOI Listing
June 2008

Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome.

Am J Med Genet A 2008 Jun;146A(12):1622-3

CSS IRCCS, Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32357DOI Listing
June 2008

Reticulate vascular lesions and a large head.

Pediatr Dermatol 2007 Sep-Oct;24(5):555-6

IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1111/j.1525-1470.2007.00519.xDOI Listing
December 2007

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

Mov Disord 2007 Jan;22(2):162-6

Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mds.21182DOI Listing
January 2007

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

Am J Med Genet A 2007 Jan;143A(2):195-9

IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31433DOI Listing
January 2007

KBG syndrome.

Orphanet J Rare Dis 2006 Dec 12;1:50. Epub 2006 Dec 12.

CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-5
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http://dx.doi.org/10.1186/1750-1172-1-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1764006PMC
December 2006

Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).

Am J Med Genet A 2006 Jul;140(14):1573-9

IRCCS-CSS San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31290DOI Listing
July 2006

Hypochondrogenesis.

Pediatr Radiol 2006 May 24;36(5):460-1. Epub 2006 Jan 24.

IRCCS-C.S.S. San Giovanni and C.S.S.-Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy.

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http://dx.doi.org/10.1007/s00247-005-0068-zDOI Listing
May 2006

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.

Invest Ophthalmol Vis Sci 2005 Oct;46(10):3539-44

Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza (IRCCS CSS), Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1167/iovs.05-0331DOI Listing
October 2005

KBG syndrome in a cohort of Italian patients.

Am J Med Genet A 2004 Dec;131(2):144-9

CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30292DOI Listing
December 2004