All Stories

  1. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    Article • Biological Psychiatry, February 2019, Elsevier

    Dr Corrado Romano

  2. Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

    Article • European Journal of Human Genetics, January 2019, Springer Science + Business Media

    Dr Corrado Romano

  3. The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

    Article • Annals of Neurology, April 2018, Wiley

    Dr Elena Gardella, Dr Corrado Romano, Nicolas Chatron

  4. Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome

    Article • International Journal of Medical Sciences, January 2018, Ivyspring International Publisher

    Rossella Cannarella, Dr Corrado Romano

  5. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

    Article • European Journal of Human Genetics, December 2017, Springer Science + Business Media

    Dr Corrado Romano

  6. Searching for new pharmacological targets for the treatment of Alzheimer's disease in Down syndrome

    Article • European Journal of Pharmacology, December 2017, Elsevier

    Dr Corrado Romano

  7. TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16

    Article • Acta Neurologica Belgica, July 2017, Springer Science + Business Media

    Dr Corrado Romano

  8. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Article • Nature Neuroscience, June 2017, Springer Science + Business Media

    Dr Corrado Romano

  9. The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer’s disease: Further Evidence in an Italian Multicenter Study

    Article • Journal of Alzheimer’s Disease, February 2017, IOS Press

    Prof Fabio Coppedè, Dr Corrado Romano

  10. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Article • Nature Genetics, February 2017, Springer Science + Business Media

    Dr Corrado Romano

  11. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

    Article • European Journal of Medical Genetics, February 2017, Elsevier

    Dr Corrado Romano

  12. A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers

    Article • The Journal of Maternal-Fetal & Neonatal Medicine, December 2016, Taylor & Francis

    Dr Corrado Romano

  13. An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation

    Article • Alzheimer s & Dementia, November 2016, Elsevier

    Dr Corrado Romano

  14. Low AMH levels as a marker of reduced ovarian reserve in young women affected by Downʼs syndrome

    Article • Menopause The Journal of The North American Menopause Society, November 2016, Wolters Kluwer Health

    Dr Corrado Romano

  15. Killer-specific secretory (Ksp37) gene expression in subjects with Down’s syndrome

    Article • Neurological Sciences, March 2016, Springer Science + Business Media

    Dr Corrado Romano

  16. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

    Article • The American Journal of Human Genetics, March 2016, Elsevier

    Dr Corrado Romano

  17. Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

    Article • Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, November 2015, Elsevier

    Dr Corrado Romano

  18. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

    Article • Journal of Human Genetics, October 2015, Springer Science + Business Media

    Dr Corrado Romano

  19. Article • Cellular and Molecular Biology, October 2015, CMB Association

    Dr Corrado Romano

  20. Recurrent duplications of 17q12 associated with variable phenotypes

    Article • American Journal of Medical Genetics Part A, September 2015, Wiley

    Dr Corrado Romano

  21. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Article • Human Mutation, September 2015, Wiley

    Maria-Isabel Tejada, Dr Corrado Romano

  22. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

    Article • European Journal of Human Genetics, August 2015, Springer Science + Business Media

    Dr Corrado Romano

  23. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

    Article • The American Journal of Human Genetics, August 2015, Elsevier

    Dr Corrado Romano

  24. Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involvingSHANK3gene: A new contiguous gene syndrome

    Article • American Journal of Medical Genetics Part A, May 2015, Wiley

    Dr Corrado Romano

  25. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

    Article • Molecular Psychiatry, February 2015, Springer Science + Business Media

    Dr Corrado Romano

  26. LDOC1 expression in fibroblasts of patients with Down syndrome

    Article • Open Life Sciences, January 2015, De Gruyter

    Dr Corrado Romano

  27. Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome

    Article • Journal of Clinical Laboratory Analysis, December 2014, Wiley

    Prof. Aldo E. Calogero, Dr Corrado Romano

  28. NF-kB1 gene expression in Down syndrome patients

    Article • Neurological Sciences, October 2014, Springer Science + Business Media

    Dr Corrado Romano

  29. Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

    Article • American Journal of Medical Genetics Part A, September 2014, Wiley

    Dr Corrado Romano

  30. Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

    Article • Genetics in Medicine, September 2014, Springer Science + Business Media

    Dr Corrado Romano

  31. Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Article • Nature Genetics, September 2014, Springer Science + Business Media

    Dr Corrado Romano

  32. The transcriptional regulatorADNPlinks the BAF (SWI/SNF) complexes with autism

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, August 2014, Wiley

    Dr Corrado Romano

  33. In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

    Article • Molecular Psychiatry, July 2014, Springer Science + Business Media

    Dr Corrado Romano

  34. Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Article • Cell, July 2014, Elsevier

    Dr Corrado Romano

  35. The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case–control study and a meta-analysis

    Article • Molecular Biology Reports, June 2014, Springer Science + Business Media

    Dr Corrado Romano

  36. Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

    Article • American Journal of Medical Genetics Part A, April 2014, Wiley

    Dr Corrado Romano

  37. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

    Article • American Journal of Medical Genetics Part A, April 2014, Wiley

    Dr Corrado Romano

  38. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    Article • Nature Genetics, February 2014, Springer Science + Business Media

    Dr Corrado Romano

  39. Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

    Article • Gene, January 2014, Elsevier

    Dr Corrado Romano

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

    Article • Human Molecular Genetics, December 2013, Oxford University Press (OUP)

    Dr Corrado Romano

  41. CASP3 protein expression by flow cytometry in Down’s syndrome subjects

    Article • Human Cell, December 2013, Springer Science + Business Media

    Prof. Aldo E. Calogero, Dr Corrado Romano

  42. The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case–control study and a meta-analysis

    Article • Molecular Biology Reports, October 2013, Springer Science + Business Media

    Dr Corrado Romano

  43. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

    Article • Journal of Medical Genetics, October 2013, BMJ

    Dr Corrado Romano

  44. 3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

    Article • American Journal of Medical Genetics Part A, September 2013, Wiley

    Dr Corrado Romano

  45. Pericentrin expression in Down’s syndrome

    Article • Neurological Sciences, August 2013, Springer Science + Business Media

    Dr Corrado Romano

  46. Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

    Article • Nature Chemical Biology, July 2013, Springer Science + Business Media

    Dr Corrado Romano

  47. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    Article • American Journal of Medical Genetics Part A, June 2013, Wiley

    Dr Corrado Romano

  48. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    Article • European Journal of Human Genetics, February 2013, Springer Science + Business Media

    Andrea Poretti, Dr Francesco Benedicenti, Dr Corrado Romano, Gian Marco Ghiggeri, Rita Barone

  49. Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi Syndrome

    Article • Genetics and Molecular Research, January 2013, Genetics and Molecular Research

    Dr Corrado Romano

  50. 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

    Article • Molecular Cytogenetics, January 2013, Springer Science + Business Media

    Dr Corrado Romano

  51. DNMT3B promoter polymorphisms and maternal risk of birth of a child with Down syndrome

    Article • Human Reproduction, October 2012, Oxford University Press (OUP)

    Dr Corrado Romano

  52. KIF21A mRNA expression in patients with Down syndrome

    Article • Neurological Sciences, September 2012, Springer Science + Business Media

    Prof. Aldo E. Calogero, Dr Corrado Romano

  53. SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down’s syndrome and cryptorchidism

    Article • Neurological Sciences, July 2012, Springer Science + Business Media

    Prof. Aldo E. Calogero, Dr Corrado Romano

  54. Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down’s syndrome subjects

    Article • Journal of Genetics, March 2012, Springer Science + Business Media

    Dr Corrado Romano

  55. Expression of LDOC1 mRNA in leucocytes of patients with Down’s syndrome

    Article • Journal of Genetics, March 2012, Springer Science + Business Media

    Prof. Aldo E. Calogero, Dr Corrado Romano

  56. A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

    Article • European Journal of Medical Genetics, January 2012, Elsevier

    Dr Corrado Romano

  57. Expression of STRBP mRNA in patients with cryptorchidism and Down’s syndrome

    Article • Journal of Endocrinological Investigation, January 2012, Springer Science + Business Media

    Dr Corrado Romano

  58. PTEN Gene: A Model for Genetic Diseases in Dermatology

    Article • The Scientific World JOURNAL, January 2012, Hindawi Publishing Corporation

    Dr Corrado Romano

  59. Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

    Article • PLoS Genetics, November 2011, PLOS

    Dr Corrado Romano

  60. Differential expression of PARP1 mRNA in leucocytes of patients with Down’s syndrome

    Article • Journal of Genetics, October 2011, Springer Science + Business Media

    Dr Corrado Romano

  61. Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

    Article • The American Journal of Human Genetics, October 2011, Elsevier

    Dr Corrado Romano

  62. Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

    Article • PLoS Genetics, July 2011, PLOS

    Dr Corrado Romano

  63. The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

    Article • American Journal of Medical Genetics Part A, June 2011, Wiley

    Dr Corrado Romano

  64. Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

    Article • European Journal of Human Genetics, September 2010, Springer Science + Business Media

    Dr Corrado Romano

  65. What Syndrome Is This?

    Article • Pediatric Dermatology, July 2010, Wiley

    Dr Corrado Romano

  66. Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

    Article • BMC Medical Genomics, July 2010, Springer Science + Business Media

    Dr Corrado Romano

  67. Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

    Article • European Journal of Medical Genetics, March 2010, Elsevier

    Dr Corrado Romano

  68. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    Article • Nature Genetics, February 2010, Springer Science + Business Media

    Dr Corrado Romano

  69. Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

    Article • European Journal of Human Genetics, January 2010, Springer Science + Business Media

    Dr Corrado Romano

  70. NovelTMEM67mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Article • Human Mutation, January 2010, Wiley

    Dr Francesco Benedicenti, Dr Corrado Romano, Gian Marco Ghiggeri

  71. Common pathological mutations inPQBP1induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon

    Article • Human Mutation, January 2010, Wiley

    Dr Corrado Romano

  72. The Clinical Evaluation of Patients with Mental Retardation/Intellectual Disability

    Article • January 2010, Karger Publishers

    Dr Corrado Romano

  73. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

    Article • European Journal of Human Genetics, October 2009, Springer Science + Business Media

    Dr Corrado Romano

  74. ExpandingCEP290mutational spectrum in ciliopathies

    Article • American Journal of Medical Genetics Part A, October 2009, Wiley

    Dr Francesco Benedicenti, Professor Luciana Rigoli, Dr Corrado Romano, Gian Marco Ghiggeri

  75. Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

    Article • The American Journal of Human Genetics, September 2009, Elsevier

    Dr Corrado Romano

  76. Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

    Article • The American Journal of Human Genetics, September 2009, Elsevier

    Dr Corrado Romano

  77. Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome

    Article • Clinical Genetics, August 2009, Wiley

    Dr Corrado Romano

  78. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

    Article • Journal of Medical Genetics, April 2009, BMJ

    Dr Corrado Romano

  79. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

    Article • European Journal of Medical Genetics, March 2009, Elsevier

    Dr Corrado Romano

  80. SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes

    Article • Journal of Genetics, February 2009, Springer Science + Business Media

    Dr Corrado Romano

  81. MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

    Article • Human Mutation, February 2009, Wiley

    Dr Corrado Romano, Gian Marco Ghiggeri

  82. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    Article • Nature Genetics, January 2009, Springer Science + Business Media

    Dr Corrado Romano

  83. The molecular landscape of ASPM mutations in primary microcephaly

    Article • Journal of Medical Genetics, November 2008, BMJ

    Dr Corrado Romano

  84. Inflammatory bowel disease in children and adolescents in Italy: Data from the pediatric national IBD register (1996–2003)

    Article • Inflammatory Bowel Diseases, September 2008, Oxford University Press (OUP)

    Dr Corrado Romano

  85. A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect

    Article • Clinical Genetics, June 2008, Wiley

    Dr Corrado Romano

  86. ERRATA

    Article • PEDIATRICS, May 2008, American Academy of Pediatrics (AAP)

    Dr Corrado Romano

  87. Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

    Article • International Journal of Dermatology, April 2008, Wiley

    Dr Corrado Romano

  88. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

    Article • Nature Genetics, February 2008, Springer Science + Business Media

    Dr Corrado Romano

  89. Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

    Article • PEDIATRICS, January 2008, American Academy of Pediatrics (AAP)

    Dr Corrado Romano

  90. Three new patients with dup(17)(p11.2p11.2) without autism

    Article • Clinical Genetics, January 2008, Wiley

    Dr Corrado Romano

  91. Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

    Article • European Journal of Human Genetics, January 2008, Springer Science + Business Media

    Dr Corrado Romano

  92. Bannayan-Riley-Ruvalcaba Syndrome

    Article • January 2008, Springer Science + Business Media

    Dr Corrado Romano

  93. 12q12 deletion: A new patient contributing to genotype–phenotype correlation

    Article • American Journal of Medical Genetics Part A, January 2008, Wiley

    Dr Corrado Romano

  94. Genetics of Pten Hamartoma Tumor Syndrome (PHTS)

    Article • January 2008, Springer Science + Business Media

    Dr Corrado Romano

  95. RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome

    Article • Clinica Chimica Acta, September 2007, Elsevier

    Dr Corrado Romano

  96. Free and total leptin serum levels and soluble leptin receptors levels in two models of genetic obesity: the Prader-Willi and the Down syndromes

    Article • Metabolism, August 2007, Elsevier

    Dr Corrado Romano

  97. Schizophrenia in a patient with subtelomeric duplication of chromosome 22q

    Article • Clinical Genetics, May 2007, Wiley

    Dr Corrado Romano

  98. Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2)

    Article • Journal of Medical Genetics, February 2007, BMJ

    Dr Corrado Romano

  99. The Italian XLMR bank: a clinical and molecular database

    Article • Human Mutation, January 2007, Wiley

    Dr Corrado Romano

  100. Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases

    Article • Neurological Sciences, December 2006, Springer Science + Business Media

    Dr Corrado Romano

  101. Hypersensitivity to Aromatic Anticonvulsants: In Vivo and In Vitro Cross-Reactivity Studies

    Article • Current Pharmaceutical Design, September 2006, Bentham Science Publishers

    Dr Corrado Romano

  102. 2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism

    Article • European Journal of Human Genetics, May 2006, Springer Science + Business Media

    Dr Corrado Romano

  103. 6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases

    Article • Epilepsia, May 2006, Wiley

    Dr Corrado Romano

  104. Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

    Article • Clinical Chemistry, December 2005, AACC

    Dr Corrado Romano

  105. Alopecia areata in Down syndrome: a clinical evaluation

    Article • Journal of the European Academy of Dermatology and Venereology, November 2005, Wiley

    Dr Corrado Romano

  106. Narrowing the Candidate Region for Congenital Diaphragmatic Hernia in Chromosome 15q26: Contradictory Results

    Article • The American Journal of Human Genetics, November 2005, Elsevier

    Dr Corrado Romano

  107. Denaturing HPLC-Based Assay for Detection of ATRX Gene Mutations

    Article • Clinical Chemistry, July 2005, AACC

    Dr Corrado Romano

  108. Homocysteine and related genetic polymorphisms in Down's syndrome IQ

    Article • Journal of Neurology Neurosurgery & Psychiatry, May 2005, BMJ

    Dr Corrado Romano

  109. Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation

    Article • Clinical Genetics, March 2005, Wiley

    Dr Corrado Romano

  110. Piezogenic pedal papules during Prader-Willi syndrome

    Article • Journal of the European Academy of Dermatology and Venereology, January 2005, Wiley

    Dr Corrado Romano

  111. Medial Telangiectatic Sacral Nevi and Mca/Mr Syndromes

    Article • Pediatric Dermatology, July 2003, Wiley

    Dr Corrado Romano

  112. Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome

    Article • American Journal of Medical Genetics Part A, May 2003, Wiley

    Dr Corrado Romano

  113. Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

    Article • European Journal of Human Genetics, April 2003, Springer Science + Business Media

    Dr Corrado Romano

  114. Genetic Determinants of Folate and Vitamin B12 Metabolism: A Common Pathway in Neural Tube Defect and Down Syndrome?

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2003, De Gruyter

    Dr Corrado Romano

  115. A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?

    Article • Journal of Medical Genetics, April 2002, BMJ

    Dr Corrado Romano

  116. Is there a relationship between zinc and the peculiar comorbidities of Down syndrome?

    Article • Down Syndrome Research and Practice, January 2002, Down Syndrome Education International

    Dr Corrado Romano

  117. Allele ε4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation

    Article • Neuroscience Letters, June 2001, Elsevier

    Dr Corrado Romano

  118. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

    Article • Journal of Medical Genetics, June 2001, BMJ

    Dr Corrado Romano

  119. Neuroendocrine features of pubertal development in females with mental retardation

    Article • Gynecological Endocrinology, June 2001, Taylor & Francis

    Dr Corrado Romano

  120. Facial and Skeletal Malformations, Mental Retardation, Aganglionosis, and Neurogenic Muscle Weakness: A Variant of Niikawa-Kuroki Syndrome or a New Syndrome?

    Article • Journal of Child Neurology, April 2001, SAGE Publications

    Dr Corrado Romano

  121. Neuroendocrine features of pubertal development in females with mental retardation

    Article • Gynecological Endocrinology, January 2001, Taylor & Francis

    Dr Corrado Romano

  122. Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

    Article • Prenatal Diagnosis, January 2001, Wiley

    Dr Corrado Romano

  123. Rubinstein–Taybi Syndrome with Epidermal Nevus: A Case Report

    Article • Pediatric Dermatology, January 2001, Wiley

    Dr Corrado Romano

  124. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

    Article • American Journal of Medical Genetics, January 2000, Wiley

    Dr Corrado Romano

  125. Medial Telangiectatic Sacral Nevi (Types A and C) Associated with Williams Syndrome

    Article • Dermatology, January 2000, Karger Publishers

    Dr Corrado Romano

  126. PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

    Article • Human Molecular Genetics, August 1999, Oxford University Press (OUP)

    Dr Corrado Romano

  127. Sulphation deficit in “low-functioning” autistic children: a pilot study

    Article • Biological Psychiatry, August 1999, Elsevier

    Dr Corrado Romano

  128. Cardiofaciocutaneous (CFC) syndrome

    Article • Australasian Journal of Dermatology, May 1999, Wiley

    Dr Corrado Romano

  129. Progressive Cribriform and Zosteriform Hyperpigmentation: The Late-Onset Feature of Linear and Whorled Nevoid Hypermelanosis Associated with Congenital Neurological, Skeletal and Cutaneous Anomalies

    Article • Dermatology, January 1999, Karger Publishers

    Dr Corrado Romano

  130. An intriguing case of LEOPARD syndrome.

    Article • Pediatric Dermatology, March 1998, Wiley

    Dr Corrado Romano

  131. A gene for FG syndrome maps in the Xq12-q21.31 region

    Article • American Journal of Medical Genetics, November 1997, Wiley

    Dr Corrado Romano

  132. Prevalence of atopic dermatitis in patients with Down syndrome: A clinical survey

    Article • Journal of the American Academy of Dermatology, June 1997, Elsevier

    Dr Corrado Romano

  133. LOCALIZED ELASTOSIS PERFORANS SERPIGINOSA IN A BOY WITH DOWN SYNDROME

    Article • Pediatric Dermatology, May 1997, Wiley

    Dr Corrado Romano

  134. Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study

    Article • Child s Nervous System, November 1996, Springer Science + Business Media

    Dr Corrado Romano

  135. Celiac Disease in Down's Syndrome with HLA Serological and Molecular Studies

    Article • Journal of Pediatric Gastroenterology and Nutrition, October 1996, Wolters Kluwer Health

    Dr Corrado Romano

  136. CUTANEOUS FINDINGS IN THE MENTALLY RETARDED

    Article • International Journal of Dermatology, May 1996, Wiley

    Dr Corrado Romano

  137. Basal body temperature curves and endocrine pattern of menstrual cycles in Down syndrome

    Article • Gynecological Endocrinology, January 1996, Taylor & Francis

    Dr Corrado Romano

  138. Milia-like idiopathic calcinosis cutis: an unusual dermatosis associated with Down syndrome

    Article • British Journal of Dermatology, January 1996, Wiley

    Dr Corrado Romano

  139. A CASE OF FG SYNDROME WITH GINGIVAL HYPERPLASIA AND KELOIDS

    Article • Pediatric Dermatology, December 1995, Wiley

    Dr Corrado Romano

  140. A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome

    Article • Brain and Development, March 1995, Elsevier

    Dr Corrado Romano

  141. SKIN-PICKING: THE BEST CUTANEOUS FEATURE IN THE RECOGNIZATION OF PRADER-WILLI SYNDROME

    Article • International Journal of Dermatology, December 1994, Wiley

    Dr Corrado Romano

  142. Phenotypic and phoniatric findings in mosaic cri du chat syndrome

    Article • American Journal of Medical Genetics, June 1991, Wiley

    Dr Corrado Romano

  143. Brain dysfunction and the immune system: Lymphocyte's beta-adrenergic receptor in down syndrome

    Article • Pharmacological Research, October 1990, Elsevier

    Dr Corrado Romano

  144. Molecular analysis of aldolase B genes in hereditary fructose intolerance

    Article • The Lancet, February 1990, Elsevier

    Dr Corrado Romano

  145. Ichthyosis and neutral lipid storage disease

    Article • American Journal of Medical Genetics, February 1988, Wiley

    Dr Corrado Romano