Paola Grammatico

Paola Grammatico

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Paola Grammatico

Publications by authors named "Paola Grammatico"

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The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype.

Clin Genet 2020 Jan 29. Epub 2020 Jan 29.

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

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http://dx.doi.org/10.1111/cge.13682DOI Listing
January 2020

Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.

Rheumatology (Oxford) 2019 Oct;58(10):1722-1730

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

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http://dx.doi.org/10.1093/rheumatology/kez029DOI Listing
October 2019

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers.

J Hum Genet 2019 Aug 13;64(8):721-728. Epub 2019 May 13.

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

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http://dx.doi.org/10.1038/s10038-019-0598-0DOI Listing
August 2019

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

Eur J Med Genet 2019 Aug 14:103739. Epub 2019 Aug 14.

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

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http://dx.doi.org/10.1016/j.ejmg.2019.103739DOI Listing
August 2019

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Psychiatr Genet 2019 06;29(3):86-90

Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital.

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http://dx.doi.org/10.1097/YPG.0000000000000217DOI Listing
June 2019

Characterization of Two Novel Intronic Variants Affecting in -Related Disorders.

Genes (Basel) 2019 06 10;10(6). Epub 2019 Jun 10.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo FG, Italy.

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http://dx.doi.org/10.3390/genes10060442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627396PMC
June 2019

A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor.

HLA 2019 04 3;93(4):232-233. Epub 2019 Feb 3.

S.Camillo-Forlanini Hospital, Medical Genetics Laboratory, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1111/tan.13471DOI 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

Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.

Minerva Pediatr 2018 Dec 12;70(6):639-642. Epub 2018 Apr 12.

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

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http://dx.doi.org/10.23736/S0026-4946.18.05011-9DOI Listing
December 2018

Two novel RHD alleles encoding truncated, nonfunctional D polypeptides.

Transfusion 2018 08 6;58(8):2082-2083. Epub 2018 May 6.

Transfusion Medicine Unit, San Camillo Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1111/trf.14657DOI Listing
August 2018

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

Eur J Paediatr Neurol 2018 May 3;22(3):552-557. Epub 2018 Feb 3.

Medical Genetics Unit, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2018.01.024DOI Listing
May 2018

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Eur J Hum Genet 2018 04 21;26(4):582-586. Epub 2018 Feb 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.

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http://dx.doi.org/10.1038/s41431-017-0079-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891500PMC
April 2018

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Am J Med Genet B Neuropsychiatr Genet 2017 Oct 2;174(7):732-739. Epub 2017 Aug 2.

Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32570DOI Listing
October 2017

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.

Eur J Paediatr Neurol 2016 Nov 11;20(6):971-976. Epub 2016 Jul 11.

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

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http://dx.doi.org/10.1016/j.ejpn.2016.07.003DOI Listing
November 2016

Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family.

Ophthalmic Genet 2016 09 5;37(3):318-22. Epub 2016 Feb 5.

f Department of Ophthalmology , San Camillo-Forlanini Hospital , Rome , Italy.

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http://dx.doi.org/10.3109/13816810.2015.1059460DOI Listing
September 2016

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes.

Neurology 2016 07 15;87(2):155-9. Epub 2016 Jun 15.

From 3rd Neurology Unit and Skin Biopsy (D.C., R.L., F.C., E.D.B., G.L.), Peripheral Neuropathy and Neuropathic Pain Laboratory, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan; Unit of Medical Genetics (M.C., P.G.), Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy; Neurology Unit (A.P.), San Camillo-Forlanini Hospital, Rome; and Division of Biology and Genetics (C.D., M.C.), Department of Molecular and Translational Medicine, University of Brescia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000002847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940063PMC
July 2016

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses.

Am J Med Genet A 2016 Mar 21;170(3):676-87. Epub 2015 Dec 21.

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

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http://dx.doi.org/10.1002/ajmg.a.37510DOI Listing
March 2016

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

Gene 2016 Feb 2;577(2):227-35. Epub 2015 Dec 2.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense, 87-00152 Rome, Italy.

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http://dx.doi.org/10.1016/j.gene.2015.11.048DOI Listing
February 2016

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.

Birth Defects Res A Clin Mol Teratol 2016 Jan 11;106(1):61-8. Epub 2015 Dec 11.

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

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http://dx.doi.org/10.1002/bdra.23463DOI Listing
January 2016

Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.

Birth Defects Res A Clin Mol Teratol 2015 Jun 31;103(6):554-66. Epub 2014 Oct 31.

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

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http://dx.doi.org/10.1002/bdra.23327DOI Listing
June 2015

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Am J Med Genet A 2015 Apr 23;167A(4):842-51. Epub 2015 Feb 23.

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

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http://dx.doi.org/10.1002/ajmg.a.36983DOI Listing
April 2015

An additional patient with 3q27.3 microdeletion syndrome.

J Child Neurol 2015 Mar 17;30(4):500-4. Epub 2014 Jul 17.

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

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http://dx.doi.org/10.1177/0883073814539557DOI Listing
March 2015

Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain.

Am J Med Genet C Semin Med Genet 2015 Mar 5;169C(1):84-96. Epub 2015 Feb 5.

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http://dx.doi.org/10.1002/ajmg.c.31426DOI Listing
March 2015

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

Eur J Med Genet 2015 Feb 23;58(2):66-70. Epub 2014 Dec 23.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.005DOI Listing
February 2015

Environmental, parental and gestational factors that influence the occurrence of hypospadias in male patients.

J Pediatr Urol 2015 Feb 3;11(1):12-9. Epub 2015 Feb 3.

Institute of Molecular Biology and Pathology, CNR, Department of Biology and Biotechnology, Sapienza - University of Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jpurol.2014.10.003DOI Listing
February 2015

Three missense mutations found in the KEL gene lead to K(mod) or K0 red blood cell phenotypes.

Transfusion 2014 Dec 20;54(12):3216-21. Epub 2014 Jul 20.

Department of Transfusion Medicine, San Camillo Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1111/trf.12748DOI Listing
December 2014

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Endocr Connect 2014 Dec 23;3(4):180-92. Epub 2014 Sep 23.

Department of Molecular MedicineMedical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, ItalyDepartment of Pediatrics and HematologySan Camillo-Forlanini Hospital, A.O. San Camillo-Forlanini, Padiglione Baccelli, II piano, Pediatria ed Ematologia Pediatrica, Circonvallazione Gianicolense 87, Rome 00152, ItalyPsychology DepartmentSan Camillo-Forlanini Hospital, A.O. San Camillo-Forlanini, Dipartimento di Pscicologia, Circonvallazione Gianicolense 87, Rome 00152, ItalyDepartment of Pediatric SurgerySan Camillo-Forlanini Hospital, A.O. San Camillo-Forlanini, Padiglione Baccelli, II piano, Pediatria ed Ematologia Pediatrica, Circonvallazione Gianicolense 87, Rome 00152, Italy.

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http://dx.doi.org/10.1530/EC-14-0085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195882PMC
December 2014

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

Am J Med Genet A 2014 Nov 26;164A(11):2938-46. Epub 2014 Aug 26.

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

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http://dx.doi.org/10.1002/ajmg.a.36729DOI Listing
November 2014

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.

Blood Cells Mol Dis 2014 Feb-Mar;52(2-3):83-7. Epub 2013 Sep 20.

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

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https://linkinghub.elsevier.com/retrieve/pii/S10799796130020
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http://dx.doi.org/10.1016/j.bcmd.2013.08.003DOI Listing
August 2014

Novel SMAD4 mutation causing Myhre syndrome.

Am J Med Genet A 2014 Jul 8;164A(7):1835-40. Epub 2014 Apr 8.

Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36544DOI Listing
July 2014

Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome.

J Craniofac Surg 2014 May;25(3):e304-7

From the *Dipartimento di Scienze Odontostomatologiche e maxillofacciali, and †Dipartimento di Pediatria, Emergenza Pediatrica e Terapia Intensiva, Università Sapienza di Roma; and ‡Divisione di Genetica Medica, Dipartimento di Medicina Molecolare, Università Sapienza, Ospedale San Camillo-Forlanini l, Roma, Italia.

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http://dx.doi.org/10.1097/SCS.0000000000000407DOI Listing
May 2014

Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type.

Am J Med Genet A 2014 Mar 6;164A(3):588-90. Epub 2014 Feb 6.

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

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http://dx.doi.org/10.1002/ajmg.a.36437DOI Listing
March 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

Comedonal Darier disease: report of 2 cases.

J Am Acad Dermatol 2013 Dec;69(6):e307-9

Dermatopathology Unit, San Gallicano Dermatological Institute, Rome, Italy.

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http://dx.doi.org/10.1016/j.jaad.2013.08.035DOI Listing
December 2013

Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Am J Med Genet A 2013 Dec 6;161A(12):2989-3004. Epub 2013 Nov 6.

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

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http://dx.doi.org/10.1002/ajmg.a.36315DOI Listing
December 2013

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

Eur J Med Genet 2013 Oct 27;56(10):570-6. Epub 2013 Aug 27.

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

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http://dx.doi.org/10.1016/j.ejmg.2013.08.004DOI Listing
October 2013

The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.

Am J Med Genet A 2013 Oct 16;161A(10):2675-7. Epub 2013 Aug 16.

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

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http://dx.doi.org/10.1002/ajmg.a.36131DOI Listing
October 2013

Vaginoplasty for disorders of sex development.

Front Endocrinol (Lausanne) 2013 11;4:29. Epub 2013 Mar 11.

Department of Pediatric Surgery, S. Camillo-Forlanini Hospital Rome, Italy.

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http://dx.doi.org/10.3389/fendo.2013.00029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3593621PMC
March 2013

Genetic skin diseases predisposing to basal cell carcinoma.

Eur J Dermatol 2012 May-Jun;22(3):299-309

Department of Molecular Medicine, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1684/ejd.2011.1633DOI Listing
September 2012

Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study.

Am J Ophthalmol 2012 Sep 24;154(3):593-600.e1. Epub 2012 May 24.

Department of Ophthalmology, Sapienza University, Umberto I Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ajo.2012.03.023DOI Listing
September 2012

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.

Am J Med Genet A 2012 Sep 27;158A(9):2176-82. Epub 2012 Jul 27.

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

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http://dx.doi.org/10.1002/ajmg.a.35506DOI Listing
September 2012

Evaluation of lower limb disability in joint hypermobility syndrome.

Rheumatol Int 2012 Aug 27;32(8):2577-81. Epub 2011 Jul 27.

Physical Medicine and Rehabilitation Division, Umberto I Hospital, Sapienza University, Piazzale Aldo Moro 5, 00185 Rome, Italy.

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http://dx.doi.org/10.1007/s00296-011-2044-2DOI Listing
August 2012

Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer.

Mitochondrion 2012 May 18;12(3):363-9. Epub 2012 Feb 18.

Parasitology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.mito.2012.02.003DOI Listing
May 2012

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Am J Med Genet A 2012 May 9;158A(5):1164-9. Epub 2012 Apr 9.

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

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http://dx.doi.org/10.1002/ajmg.a.35266DOI Listing
May 2012

Symptom and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type).

Clin Exp Rheumatol 2011 Nov-Dec;29(6):998-1005

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

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March 2012

Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: a novel variant of the "phacomatosis complex".

Am J Med Genet A 2012 Feb 13;158A(2):445-9. Epub 2012 Jan 13.

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

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http://dx.doi.org/10.1002/ajmg.a.34403DOI Listing
February 2012

Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

Cancer Epidemiol 2011 Dec 3;35(6):e116-20. Epub 2011 Sep 3.

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

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http://dx.doi.org/10.1016/j.canep.2011.07.007DOI Listing
December 2011

Reassessment of oral frenula in Ehlers-Danlos syndrome: a study of 32 patients with the hypermobility type.

Am J Med Genet A 2011 Dec 7;155A(12):3157-9. Epub 2011 Nov 7.

Department of Physical Medicine and Rehabilitation, Sapienza University, Umberto I Hospital, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.34330
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http://dx.doi.org/10.1002/ajmg.a.34330DOI Listing
December 2011

Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

Am J Med Genet A 2011 Sep 3;155A(9):2314-6. Epub 2011 Aug 3.

Department of Clinical Science, Sapienza University, Umberto I Hospital, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.34134
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http://dx.doi.org/10.1002/ajmg.a.34134DOI Listing
September 2011

Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis.

Am J Med Genet A 2011 Sep 3;155A(9):2253-6. Epub 2011 Aug 3.

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

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http://dx.doi.org/10.1002/ajmg.a.34140DOI Listing
September 2011

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.

Am J Med Genet A 2011 Jul 10;155A(7):1756-8. Epub 2011 Jun 10.

Department of Obstetrics and Gynecology, Sapienza University, Policlinico Umberto I Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34052DOI Listing
July 2011

The nosology of Richieri-Costa/Guion-Almeida syndrome(s).

Am J Med Genet A 2011 Feb 22;155A(2):398-402. Epub 2010 Dec 22.

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.33805
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http://dx.doi.org/10.1002/ajmg.a.33805DOI Listing
February 2011

Neuropathic pain is a common feature in Ehlers-Danlos syndrome.

J Pain Symptom Manage 2011 Jan 8;41(1):e2-4. Epub 2010 Dec 8.

Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy; Don Carlo Gnocchi Onlus Foundation, Italy.

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http://dx.doi.org/10.1016/j.jpainsymman.2010.09.012DOI Listing
January 2011

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling.

PLoS One 2011 Jan 28;6(1):e16366. Epub 2011 Jan 28.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0016366PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030573PMC
January 2011

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Asian J Androl 2010 Nov 26;12(6):819-26. Epub 2010 Jul 26.

Department of Clinical Sciences and Bioimages, 'G. d'Annunzio' University, Chieti-Pescara 66013, Italy.

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http://dx.doi.org/10.1038/aja.2010.58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739074PMC
November 2010

Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.

Am J Med Genet A 2010 Nov;152A(11):2810-5

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.33634
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http://dx.doi.org/10.1002/ajmg.a.33634DOI Listing
November 2010

Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome.

Eur J Med Genet 2010 May-Jun;53(3):149-52. Epub 2010 Feb 26.

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

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http://dx.doi.org/10.1016/j.ejmg.2010.02.005DOI Listing
October 2010

Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives.

Am J Med Genet A 2010 Sep;152A(9):2406-8

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.33585
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http://dx.doi.org/10.1002/ajmg.a.33585DOI Listing
September 2010

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.

Am J Med Genet A 2010 Aug;152A(8):2043-7

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

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http://dx.doi.org/10.1002/ajmg.a.33490DOI Listing
August 2010

Sirenomelia and VACTERL association in the offspring of a woman with diabetes.

Am J Med Genet A 2010 Jul;152A(7):1803-7

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

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http://dx.doi.org/10.1002/ajmg.a.33460DOI Listing
July 2010

Maternal exposures to endocrine disrupting chemicals and hypospadias in offspring.

Birth Defects Res A Clin Mol Teratol 2010 Apr;88(4):241-50

Department of Animal and Human Biology (c/o Anthropology), University of Rome, La Sapienza, Rome, Italy.

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http://dx.doi.org/10.1002/bdra.20657DOI Listing
April 2010

Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients.

Am J Med Genet A 2010 Mar;152A(3):556-64

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

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http://dx.doi.org/10.1002/ajmg.a.33231DOI Listing
March 2010