Marcella Zollino

Summary

Affiliation: Catholic University
Country: Italy

Publications

  1. ncbi request reprint Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy
    Gabriella De Rosa
    Department of Paediatric Cardiology, Institute of Paediatrics, Catholic University of the Sacred Heart, Largo Agostino Gemelli 8, 00168 Rome, Italy
    Eur J Pediatr 164:255-6. 2005
  2. doi request reprint On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review
    Marcella Zollino
    Department of Medical Genetics, Universita Cattolica Sacro Cuore, Roma, Italy
    Am J Med Genet C Semin Med Genet 148:257-69. 2008
  3. pmc Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Roma, Italy
    Eur J Hum Genet 19:239-42. 2011
  4. doi request reprint Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy
    Nat Genet 44:636-8. 2012
  5. ncbi request reprint A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Roma, Italy
    Eur J Hum Genet 12:797-804. 2004
  6. pmc Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Université Cattolica Sacro Cuore, Roma, Italy
    Am J Hum Genet 72:590-7. 2003
  7. ncbi request reprint Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Rome, Italy
    Am J Med Genet A 117:65-71. 2003
  8. ncbi request reprint Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
    Marcella Zollino
    Istituto di Genetica Medica, Policlinico A Gemelli, Universita Cattolica Sacro Cuore, L go F Vito, 1, 00168, Rome, Italy
    Hum Genet 122:423-30. 2007
  9. ncbi request reprint Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
    M Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Rome, Italy
    Am J Med Genet 94:254-61. 2000
  10. ncbi request reprint Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome
    M Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy
    Am J Med Genet 87:391-4. 1999

Detail Information

Publications52

  1. ncbi request reprint Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy
    Gabriella De Rosa
    Department of Paediatric Cardiology, Institute of Paediatrics, Catholic University of the Sacred Heart, Largo Agostino Gemelli 8, 00168 Rome, Italy
    Eur J Pediatr 164:255-6. 2005
  2. doi request reprint On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review
    Marcella Zollino
    Department of Medical Genetics, Universita Cattolica Sacro Cuore, Roma, Italy
    Am J Med Genet C Semin Med Genet 148:257-69. 2008
    ..With the exception of parental balanced translocations, familial recurrence is uncommon...
  3. pmc Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Roma, Italy
    Eur J Hum Genet 19:239-42. 2011
    ....
  4. doi request reprint Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy
    Nat Genet 44:636-8. 2012
    ..31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1...
  5. ncbi request reprint A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Roma, Italy
    Eur J Hum Genet 12:797-804. 2004
    ..It can be inferred that a double, cryptic chromosome imbalance is an important factor for phenotypic variability in WHS. It acts either by masking the actual deletion size or by doubling a quantitative change of the genome...
  6. pmc Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Université Cattolica Sacro Cuore, Roma, Italy
    Am J Hum Genet 72:590-7. 2003
    ..On the basis of genotype-phenotype correlation analysis, dividing the WHS phenotype into two distinct clinical entities, a "classical" and a "mild" form, is recommended for the purpose of proper genetic counseling...
  7. ncbi request reprint Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Rome, Italy
    Am J Med Genet A 117:65-71. 2003
    ..Thus, this condition is no longer to be considered X-linked, but the result of cryptic autosomal imbalance. Furthermore, this study identified an approximately 14 Mb interval in 1q44qter pathogenetically related to polymicrogyria...
  8. ncbi request reprint Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
    Marcella Zollino
    Istituto di Genetica Medica, Policlinico A Gemelli, Universita Cattolica Sacro Cuore, L go F Vito, 1, 00168, Rome, Italy
    Hum Genet 122:423-30. 2007
    ..It was detected only in the mothers of 3 t(4p;8p) cases. We conclude that WHS-associated chromosome changes are not usually mediated by low copy repeats. The 4p16.3 inversion polymorphism is not a risk factor for their origin...
  9. ncbi request reprint Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
    M Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Rome, Italy
    Am J Med Genet 94:254-61. 2000
    ..Based on these observations a "minimal" WHS phenotype was inferred, the clinical manifestations of which are restricted to the typical facial appearance, mild mental and growth retardation, and congenital hypotonia...
  10. ncbi request reprint Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome
    M Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy
    Am J Med Genet 87:391-4. 1999
    ..The present report confirms previous claims that gene(s) in the distal 15q region play a role in suture formation. At the same time it adds new data to the delineation of a 15q25-qter trisomy syndrome...
  11. doi request reprint Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation
    Amelia Conte
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Rome, Italy
    J Neurol Neurosurg Psychiatry 83:1201-3. 2012
    ..To classify familial amyotrophic lateral sclerosis (FALS) on the base of family history, and to determine whether frequency of mutations in major amyotrophic lateral sclerosis (ALS) genes varies in different FALS categories...
  12. doi request reprint The ring 14 syndrome: clinical and molecular definition
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica del S Cuore, Roma, Italy
    Am J Med Genet A 149:1116-24. 2009
    ..2-q12 region. Likewise, behavior disorders and scoliosis could be assigned to the 14q32 region...
  13. doi request reprint Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease
    Serena Lattante
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Neurology 79:66-72. 2012
    ..To quantify the overall contribution of mutations in the currently known amyotrophic lateral sclerosis (ALS) genes in a large cohort of sporadic patients and to make genotype-phenotype correlations...
  14. doi request reprint Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study
    Mario Sabatelli
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Roma, Italy
    Amyotroph Lateral Scler 13:580-4. 2012
    ..In conclusion, the present data confirm that CHRNA4 variants are overrepresented in SALS strengthening the hypothesis can they act as predisposing genetic factors for SALS...
  15. doi request reprint The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Roma, Italy
    Am J Med Genet A 155:1536-45. 2011
    ..Based on striking clinical criteria, a diagnosis of PTHS was made clinically in two patients who had normal TCF4. This report deals with the first series of PTHS patients of Italian origin...
  16. doi request reprint SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant
    Marco Luigetti
    Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy
    Neurobiol Aging 32:1924.e15-8. 2011
    ....
  17. doi request reprint Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Roma, Italy
    Am J Med Genet A 146:2313-7. 2008
    ..3 microduplications encompassing the Rubinstein-Taybi region result in a recognizable clinical condition, most likely representing a single gene disorder...
  18. doi request reprint Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case
    Chiara Veredice
    Child Neurology and Psychiatry, Catholic University, Rome, Italy
    Epilepsia 50:1810-5. 2009
    ..Our findings suggest that genes for seizures could be included in the 15q26.1q26.2 deletion interval...
  19. pmc TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Largo Francesco Vito 1, Rome, Italy
    Eur J Hum Genet 21:229-32. 2013
    ....
  20. doi request reprint P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis
    Amelia Conte
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, L go A Gemelli 8, 00168 Rome, Italy
    Neuromuscul Disord 22:73-5. 2012
    ..Our findings, together with literature data, indicate that this mutation is consistently associated with a specific phenotype characterized by juvenile onset, severe course and high proportion of de novo mutations in sporadic cases...
  21. ncbi request reprint Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome
    Elisabetta Tabolacci
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Clin Dysmorphol 14:127-32. 2005
    ..Thus, we describe the first familial case of 22q13 deletion and recommend that patients with a phenotype suggestive of the so-called Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion...
  22. doi request reprint Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Roma, Italy
    Am J Med Genet A 158:1604-11. 2012
    ..This scoring system is also proposed for a clinically based diagnosis of PTHS in absence of a proven TCF4 mutation...
  23. doi request reprint The ring 14 syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Largo F Vito 1, Rome, Italy
    Eur J Med Genet 55:374-80. 2012
    ..Behavior disorders and susceptibility to infections can be assigned to the 14q32 region, haploinsufficiency being the most likely underlying mechanism...
  24. doi request reprint Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS
    Mario Sabatelli
    Istituto di Neurologia, Università Cattolica del Sacro, Rome, Italy
    Amyotroph Lateral Scler 12:278-82. 2011
    ..In summary, UMN-D ALS showed significant differences in age of onset, sex ratio, pattern of spreading and prognosis with respect to other ALS forms, most probably reflecting biological differences...
  25. doi request reprint Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion
    Marco Luigetti
    Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy
    Amyotroph Lateral Scler Frontotemporal Degener 14:66-9. 2013
    ..We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected...
  26. doi request reprint A novel L67P SOD1 mutation in an Italian ALS patient
    Alessandra Del Grande
    Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy
    Amyotroph Lateral Scler 12:150-2. 2011
    ..Our data confirm that variable penetrance and predominant lower motor neuron involvement are common characteristics in patients bearing mutations in exon 3 of the SOD1 gene...
  27. ncbi request reprint Electroclinical patterns and evolution of epilepsy in the 4p- syndrome
    Domenica Battaglia
    Child Neurology and Psychiatry Medical Genetics Institute of Pediatrics, Catholic University, School of Medicine, Rome, Italy
    Epilepsia 44:1183-90. 2003
    ..Seizures occur in almost all the cases, but studies on the electroclinical disorder and its evolution are still scarce. We present a longitudinal study of the electroclinical features in 10 children with WHS...
  28. doi request reprint Low incidence of secondary neoplasia after autotransplantation for lymphoproliferative disease: the role of pre-transplant therapy
    Luca Laurenti
    Department of Haematology, Universita Cattolica del Sacro Cuore Roma, Rome, Italy
    Clin Transplant 22:191-9. 2008
    ..The low incidence of secondary solid tumors could be caused by the absence of total body irradiation as part of the conditioning regimen or the short follow-up...
  29. ncbi request reprint Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes
    Francesca Faravelli
    SC Genetica Umana, Ospedale Galliera, Genova, and Istituto di Genetica Medica, Facoltà di Mediciina e Chirurgia, Policlinico A Gemelli, UCSC, Roma, Italy
    Am J Med Genet A 143:1169-73. 2007
    ..At the same time, the present report adds new insights to mapping some peculiar WHS clinical signs, such as seizures and severe growth delay...
  30. ncbi request reprint The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12
    Rosetta Lecce
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Largo F Vito 1, 00168, Rome, Italy
    Hum Genet 118:760-6. 2006
    ..These results provide important insights both in the genetic counselling and in the prenatal diagnosis of rare euchromatic chromosome variants and in understanding the architecture of the human genome...
  31. pmc C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population
    Mario Sabatelli
    Neurological Institute, Catholic University and I CO M M Association for ALS Research, Rome, Italy
    Neurobiol Aging 33:1848.e15-20. 2012
    ....
  32. doi request reprint A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age
    Antonio Mancini
    Catholic University of the Sacred Heart, Rome, Italy
    Fertil Steril 90:2011.e17-21. 2008
    ..To report a case of a 45,X man, a rare condition with a clinical course that has not been dealt with by any previous article in the literature...
  33. doi request reprint Ocular manifestations in Wolf-Hirschhorn syndrome
    Anna Dickmann
    Ophtalmology Institute, Catholic University of Rome, Rome, Italy
    J AAPOS 13:264-7. 2009
    ....
  34. doi request reprint A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Largo F Vito 1, Roma 00168, Italy
    J Med Genet 47:429-32. 2010
    ..It also supports the model of two independent domains within the BWS locus...
  35. doi request reprint An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss
    Alessandra Terracciano
    Molecular Medicine and Neurology, IRCCS Bambino Gesù Children s Hospital, Piazza S Onofrio, 4 00165, Rome, Italy
    Neurogenetics 10:151-5. 2009
    ..Our findings suggest that a "microdeletion" on chromosome 13q12 represents a novel allelic variant associated with ARSACS, stressing the need for an expanded testing in molecular diagnostic laboratories...
  36. doi request reprint Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis
    Mario Sabatelli
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Roma, Italy
    Hum Mol Genet 18:3997-4006. 2009
    ....
  37. doi request reprint A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies
    Marco Luigetti
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Pol A Gemelli Largo Gemelli 8, Rome, Italy
    Muscle Nerve 38:1060-4. 2008
    ..We conclude that this novel 227delG mutation of PMP22 gives a mild form of hereditary neuropathy with liability to pressure palsy with atypical clinical and electrophysiological findings...
  38. doi request reprint Natural history of young-adult amyotrophic lateral sclerosis
    M Sabatelli
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Rome, Italy
    Neurology 71:876-81. 2008
    ..The purpose of this study is to describe clinical and prognostic features of young-adult ALS, with onset before age 40 years, and to compare them with features of the common adult-onset type...
  39. ncbi request reprint A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer
    E Lucci-Cordisco
    Institute of Medical Genetics, Catholic University A Gemelli School of Medicine, Rome, Italy
    Clin Genet 67:178-82. 2005
    ..Since there are very few reports of deletions of the 2p16-p21 region, our observation sets the grounds for the definition of a novel multiple congenital anomaly/mental retardation/cancer microdeletion syndrome...
  40. pmc Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p
    Fiorella Gurrieri
    Istituto di Genetica Medica, Universita Cattolica S Cuore, Roma, Italy
    Eur J Hum Genet 21:965-9. 2013
    ..In addition, our observation strongly suggests that in cases of LQTS due to mutation of the KCNQ1 gene (LQT1), an accurate clinical genetic evaluation should be done in order to program the most appropriate genetic tests. ..
  41. ncbi request reprint Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome
    P Chiurazzi
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Roma, Italy
    Am J Med Genet A 130:315-6. 2004
    ..More broadly, we hypothesize that overgrowth might protect from early demise fetuses conceived by ART, a technology known to cause low and very low birth weight...
  42. ncbi request reprint Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
    M I Kavamura
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Am J Med Genet A 119:177-9. 2003
    ..To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements...
  43. ncbi request reprint Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology
    G Zampino
    Istituto di Pediatria, Facolta di Medicina A Gemelli, Universita Cattolica, Rome, Italy
    Am J Med Genet 47:176-83. 1993
    ..Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive...
  44. pmc Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study
    Annunziato Mangiola
    Institute of Neurosurgery, Faculty of Medicine, Catholic University of Rome, Rome, Italy
    PLoS ONE 8:e57145. 2013
    ..Otherwise, the recurrent tumor may arise from both infiltrating tumor cells and from an interaction and recruitment of apparently normal cells in the peritumor tissue by infiltrating tumor cells...
  45. pmc Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
    Luigi Boccuto
    Greenwood Genetic Center, Greenwood, SC, USA
    Eur J Hum Genet 21:310-6. 2013
    ..This represents the first evidence of a genotype-phenotype correlation in ASDs and highlights the importance of a detailed clinical-neuropsychiatric evaluation for the effective genetic screening of ASD patients...
  46. ncbi request reprint Periodic morphologic, cytogenetic and clonality evaluation after autologous peripheral blood progenitor cell transplantation in patients with lymphoproliferative malignancies
    Luca Laurenti
    Istituto di Semeiotica Medica, Divisione di Ematologia, Policlinico A Gemelli, Largo A Gemelli, 8 00168 Rome, Italy
    Haematologica 87:59-66. 2002
    ....
  47. ncbi request reprint PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
    M I Kavamura
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Eur J Hum Genet 11:64-8. 2003
    ..The genetic cause of CFC syndrome remains unknown, and PTPN11 can be reasonably excluded as a candidate gene for the CFC syndrome, which we regard as molecular evidence that CFC and Noonan syndromes are distinct genetic entities...
  48. pmc Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3
    L Kozak
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Roma, Italy
    J Med Genet 30:866-9. 1993
    ..11 at theta = 0.00 was obtained with DXS164 and DXS278. The linked region spanned chromosomal bands Xp21.1-Xp22.3, that is, the same portion of the X chromosome where MRX2 and MRX10-13 have been previously localised...
  49. pmc Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
    Sabrina Giglio
    Biologia Generale e Genetica Medica, Universita di Pavia, Via Forlanini 14, 27100 Pavia, Italy
    Am J Hum Genet 71:276-85. 2002
    ..5% of them were scored as doubly heterozygous. These novel data emphasize the importance of segmental duplications and large-scale genomic polymorphisms in the evolution and pathology of the human genome...
  50. ncbi request reprint CFC syndrome
    Giovanni Neri
    Am J Med Genet A 116:410. 2003
  51. ncbi request reprint The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case
    Laura Rodriguez
    Estudio Colaborativo Español de Malformaciones Congénitas ECEMC del Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 136:175-8. 2005
    ..This patient supports the recent proposal by Zollino et al. [2003] that the critical region for WHS is located distally to the WHSCR between the loci D4S3327 and D4S98-D4S16, and it is called "WHSCR-2" [Zollino et al., 2003]...
  52. doi request reprint Sex reversal from functional disomy of Xp: prenatal and post-mortem findings
    Maria Piccione
    U O Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Universita degli Studi di Palermo, Palermo, Italy
    Am J Med Genet A 146:2681-7. 2008
    ..To the best of our knowledge, this is the first description of an XY fetus with a pure duplication of the entire short arm of X chromosome...