G. Scarano

M. Loane, M. Feijóo, E. Garne, 2005, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome

G. Vasco, R. Tenconi, G. Scarano, 2012, American journal of medical genetics. Part A.

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

G. Scarano, V. Gallo, G. Giardino, 2014, BMC Medical Genetics.

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

G. Scarano, G. Neri, C. Pantaleoni, 2005, American journal of medical genetics. Part A.

First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation

G. Scarano, M. Sana, M. Pinelli, 2017, American journal of medical genetics. Part A.

Small 4p16.3 deletions: Three additional patients and review of the literature

G. Scarano, M. Digilio, B. Dallapiccola, 2018, American journal of medical genetics. Part A.

Amelia: A multi‐center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

F. Bianchi, S. Bianca, G. Scarano, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Recommendations for the prenatal use of Chromosomal Microarray Analysis

G. Rembouskos, G. Scarano, B. Dallapiccola, 2015 .

International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?

S. Vollset, M. Feijóo, G. Scarano, 2005, BMJ : British Medical Journal.

Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser‐415) causes recurrent osteogenesis imperfecta

P. Pignatti, G. Scarano, A. Forlino, 1993, Human mutation.

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular‐cytogenetic, and ultrasonographic evaluation

G. Scarano, M. D. Monica, M. Ciavarella, 2009, Prenatal diagnosis.

Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system

G. Scarano, A. Federico, N. Stefano, 1996, Brain and Development.

Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review

P. Striano, N. Brunetti‐Pierri, G. Scarano, 2022, Birth defects research.

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

M. Loane, S. Bianca, E. Garne, 2014, European Journal of Human Genetics.

Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

S. Bianca, A. Pierini, G. Scarano, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Familial progeria or mandibulo-acral dysplasia?

G. Scarano, F. Cusano, 1991, American journal of medical genetics.

Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

S. Bianca, A. Pierini, G. Scarano, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Gastroschisis and associated defects: An international study

Lyubov Yevtushok, Pierpaolo Mastroiacovo, Fabrizio Bianchi, 2007, American journal of medical genetics. Part A.

How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research

Wladimir Wertelecki, Guido Cocchi, Pierpaolo Mastroiacovo, 2010, American journal of medical genetics. Part A.

CFC syndrome: report on three additional cases.

G. Scarano, B. Dallapiccola, L. Zelante, 1989, American journal of medical genetics.

Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia.

G. Scarano, F. Girolami, G. Limongelli, 2021, Heart failure clinics.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report

G. Scarano, F. Muratori, Marco Turi, 2021, Children.

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

A. Reymond, G. Scarano, O. Gabrielli, 2011, Orphanet journal of rare diseases.

A family with X‐linked recessive fusion of metacarpals IV and V

G. Scarano, M. Della Monica, F. Lonardo, 2004, American journal of medical genetics. Part A.

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

G. Scarano, G. Merla, M. D. Monica, 2021, European Journal of Pediatrics.

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

G. Scarano, M. D. Monica, F. Lonardo, 2004, Prenatal diagnosis.

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the ‘elephant trunk–like’ image and review of the literature

G. Scarano, G. Ferrara, M. Della Monica, 2005, Prenatal diagnosis.

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.

G. Scarano, G. Novelli, N. Maraldi, 2005, Physiological genomics.

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies

G. Scarano, M. Genuardi, G. Neri, 1999, European Journal of Human Genetics.

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.

Alice Maraschini, Guido Cocchi, Pierpaolo Mastroiacovo, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research

A. Pierini, G. Scarano, M. Morgan, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.

G. Scarano, G. Neri, M. Cappa, 1994, American journal of medical genetics.

Molecular analysis of holoprosencephaly in South America

S. Bianca, G. Scarano, M. A. Moreira, 2013, Genetics and molecular biology.

Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research

G. Scarano, M. Morgan, J. Carey, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

G. Scarano, B. Dallapiccola, G. Novelli, 2002, American journal of human genetics.

Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

A. Battaglia, M. Spielmann, F. Garaci, 2019, Clinical genetics.

Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

G. Scarano, M. Lonardo, M. Della Monica, 2019, Clinical genetics.

Surveillance of adverse fetal effects of medications (SAFE-Med): findings from the international Clearinghouse of birth defects surveillance and research.

Guido Cocchi, Pierpaolo Mastroiacovo, Lorenzo D Botto, 2010, Reproductive toxicology.

Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

F. Bianchi, G. Scarano, M. Morgan, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.

F. Gianfrancesco, G. Scarano, P. Russo, 2006, Molecular genetics and metabolism.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

G. Scarano, M. Filocamo, L. Pavone, 2014, American journal of medical genetics. Part A.

Abnormal B.A.E.P. in a family with Moebius syndrome: evidence for supranuclear lesion

G. Scarano, V. Ventruto, M. Stabile, 1984, Clinical genetics.

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

M. C. Savanelli, M. T. Pellecchia, G. Argenziano, 2021, Journal of public health.

Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

M. Loane, N. Baena, M. Feijóo, 2004, Prenatal diagnosis.

Evidence for Increased Clinical Severity of Familial and Sporadic Paget's Disease of Bone in Campania, Southern Italy

Pasquale Strazzullo, G. Scarano, F. Fazioli, 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Deletion of the SHOX gene in patients with short stature of unknown cause

G. Scarano, A. Giannotti, V. Gatta, 2003, American journal of medical genetics. Part A.

Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

F. Bianchi, M. Loane, E. Garne, 2014, Prenatal diagnosis.

A case of autism with an interstitial 1q deletion (1q23.3‐24.2) and a de novo translocation of chromosomes 1q and 5q

G. Scarano, D. Luquetti, O. Zuffardi, 2007, American journal of medical genetics. Part A.

Narrowing the candidate region of Albright hereditary osteodystrophy‐like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)

G. Scarano, M. D. Monica, D. Giardino, 2003, American journal of medical genetics. Part A.

Al‐Awadi/Raas‐Rothschild syndrome: Two new cases and review

G. Scarano, M. D. Monica, F. Lonardo, 2007, American journal of medical genetics. Part A.

Clinical Report Al-Awadi/Raas-Rothschild Syndrome: Two New Cases and Review

G. Scarano, D. Luquetti, M. D. Monica, 2007 .

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

M. Baumgartner, G. Scarano, Y. Chien, 2009, Human mutation.

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

G. Scarano, A. Barco, A. Selicorni, 2011, Journal of Medical Genetics.

Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy

F. Bianchi, A. Pierini, G. Scarano, 2017, International journal of environmental research and public health.

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

N. Brunetti‐Pierri, G. Scarano, D. Luquetti, 2007, European journal of medical genetics.

Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options.

G. Scarano, G. Limongelli, K. Wahbi, 2021, Heart failure clinics.

Preferential Associations between Oral Clefts and Other Major Congenital Anomalies

Guido Cocchi, Pierpaolo Mastroiacovo, Csaba Siffel, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene

G. Scarano, L. Chessa, M. Della Monica, 2009, American journal of medical genetics. Part A.

Prevalence and determinants of preconception folic acid use: an Italian multicenter survey

G. Scarano, R. M. Nilsen, E. Leoncini, 2016, Italian Journal of Pediatrics.

Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal

G. Scarano, B. Bardoni, M. Genuardi, 1995, Clinical genetics.

Prenatal diagnosis of cloverleaf skull in the subtype 2 Pfeiffer syndrome.

G. Scarano, M. D'armiento, D. Paladini, 1997, Clinical dysmorphology.

Social and geographical inequalities in prenatal care in Italy

G. Scarano, P. Mastroiacovo, R. Lanni, 1995, Prenatal diagnosis.

Prevalence of maternal preconception risk factors: an Italian multicenter survey

G. Scarano, R. M. Nilsen, E. Leoncini, 2014, Italian Journal of Pediatrics.

Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

F. Bianchi, S. Bianca, G. Scarano, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Limb reduction defects and coastal areas

G. Scarano, A. Rosano, P. Mastroiacovo, 1994, The Lancet.

t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndrome.

G. Scarano, B. Dallapiccola, V. Ventruto, 1982, Annales de genetique.

Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

S. Robertson, K. Devriendt, G. Scarano, 2012, Human mutation.

Clinical Report A Family With X-Linked Recessive Fusion of Metacarpals IV and V

G. Scarano, M. D. Monica, F. Lonardo, 2004 .

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the “Sansevero Chapel”

G. Scarano, D. Galzerano, M. Della Monica, 2013, American Journal of Medical Genetics. Part A.

The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience

M. Maghnie, G. Scarano, P. Bruzzi, 2023, Frontiers in Pediatrics.

Paternal saicism for a C 0 L U l Dominant 0 steogene s is Imperfect a

G. Scarano, A. Forlino, F. Lonardo, 2005 .

Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer

G. Scarano, C. Angelini, M. Carella, 2023, Cancers.

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

G. Pesole, G. Scarano, E. Sbisà, 2023, International journal of molecular sciences.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect

G. Scarano, G. Limongelli, V. Nigro, 2023, Genes.

Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature

S. Bianca, A. Pierini, G. Scarano, 2011 .

Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an “ultrasound first” approach

G. Scarano, E. Agolini, A. Novelli, 2023, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation.

G. Scarano, M. D. Monica, F. Lonardo, 1994, Prenatal diagnosis.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Preferential Associations between Oral Clefts and Other Major Congenital Anomalies

E. Bermejo, G. Scarano, C. Stoll, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

"Snail-like pelvis" chondrodysplasia: a further case report.

G. Scarano, P. Mastroiacovo, G. La Cava, 1991, American journal of medical genetics.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.