R. Tenconi

R. Tenconi, M. Clementi, M. Strazzabosco, 2007, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

Inheritance of astigmatism: evidence for a major autosomal dominant locus.

R. Tenconi, M. Clementi, M. Angi, 1998, American journal of human genetics.

Genotype-phenotype correlation in patients with NF1 microdeletion syndrome: identification of candidate genes for mental retardation

R. Tenconi, P. Guarnieri, M. Upadhyaya, 2002 .

Acid phosphatase in spleen tissue-culture in Gaucher's disease.

R. Tenconi, C. Baccichetti, G. Perona, 1968, Lancet.

Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe

R. Tenconi, C. Stoll, M. Clementi, 2002, Public Health Genomics.

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.

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

A. Battaglia, R. Tenconi, G. Neri, 2000, American journal of medical genetics.

Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient

G. Cantalupo, R. Tenconi, B. dalla Bernardina, 2020, American Journal of Medical Genetics. Part A.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Saskia M. J. Hopman, R. Pfundt, E. van Binsbergen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

R. Tenconi, M. Clementi, E. Boltshauser, 1998, American journal of medical genetics.

Fraser Syndrome: Epidemiological Study in a European Population

M. Loane, S. Bianca, R. Tenconi, 2013, American journal of medical genetics. Part A.

Anophthalmia and benomyl in Italy: a multicenter study based on 940,615 newborns.

F. Bianchi, R. Tenconi, E. Calzolari, 1994, Reproductive toxicology.

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.

R. Tenconi, M. Clementi, L. Larizza, 2005, Genomics.

Clinical application of genetic polymorphism in neurofibromatosis type 1.

R. Tenconi, M. Clementi, I. Mammi, 1996, Annales de Genetique.

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.

R. Tenconi, M. Clementi, L. Turolla, 1991, American journal of medical genetics.

The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→q11) associated with a characteristic phenotype

J. Opitz, R. Tenconi, J. Lindsten, 1981, Human Genetics.

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma'ayan, Wendy Schackwitz, 2009, Nature Genetics.

Partial duplication of 17 long arm.

R. Tenconi, A. Leszl, C. Baccichetti, 1988, Annales de genetique.

Chromosomal congenital anomalies and residence near hazardous waste landfill sites

M Vrijheid, R Tenconi, F. Bianchi, 2002, The Lancet.

Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy.

F. Bianchi, R. Tenconi, E. Calzolari, 1996, Birth defects original article series.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

R. Tenconi, V. Saletti, C. Leoni, 2022, Journal of Medical Genetics.

Pesticides and fertility: an epidemiological study in Northeast Italy and review of the literature.

R. Tenconi, M. Clementi, F. Maranghi, 2008, Reproductive toxicology.

An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics.

G. Gambaro, R. Tenconi, M. Clementi, 1986, The New England journal of medicine.

Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: branchio-oto-costal syndrome?

R. Tenconi, M. Clementi, I. Mammi, 1997, American journal of medical genetics.

A case of diploid/triploid mosaicism with dental Blaschko lines.

R. Tenconi, K. Ludwig, 2009, Clinical dysmorphology.

Clinical anophthalmia: an epidemiological study in northeast Italy based on 368,256 consecutive births.

R. Tenconi, M. Clementi, I. Mammi, 1992, Teratology.

Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries.

F. Bianchi, R. Tenconi, E. Calzolari, 1993, Teratology.

Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation.

F. Anglani, R. Tenconi, F. Zacchello, 1975, Journal of medical genetics.

Aortic elastin abnormalities in osteogenesis imperfecta type II.

R. Tenconi, D. Quaglino, D. Volpin, 1986, Collagen and related research.

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2

R. Tenconi, P. Guarnieri, M. Upadhyaya, 2004, Journal of Medical Genetics.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

S. Scherer, B. Chung, C. Cytrynbaum, 2020, American journal of human genetics.

Blastogenesis dominant 1: a sequence with midline anomalies and heterotaxy.

R. Tenconi, P. Bouvagnet, P. Sarda, 1997, American journal of medical genetics.

Lethal multiple pterygium syndrome: importance of fetal physical examination.

R. Tenconi, M. Clementi, L. Notari, 1995, American journal of medical genetics.

Mutational spectrum of the CTNS gene in Italy

R. Tenconi, G. Rizzoni, M. Clementi, 2003, European Journal of Human Genetics.

Reciprocal translocations: a trap for cytogenetists?

M. Rocchi, R. Tenconi, R. Guerrini, 2005, Human Genetics.

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Michael J Ackerman, Wendy Schackwitz, Claudio Carta, 2007, Nature Genetics.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma’ayan, Wendy Schackwitz, 2009 .

A new family with extra material on proximal 15q.

R. Tenconi, A. Leszl, L. Turolla, 1989, Annales de genetique.

hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.

S. Dimauro, R. Tenconi, G. Basso, 2005, Biochemical and biophysical research communications.

Mental retardation and cardiovascular malformations in NF 1 microdeleted patients point to candidate genes in 17 q 11 . 2 *

R. Tenconi, P. Guarnieri, M. Upadhyaya, 2004 .

Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

S. Vollset, E. Bermejo, S. Bianca, 2003, Journal of medical genetics.

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

R. Tenconi, M. Carella, E. Lapi, 2021, Genes.

STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.

R Tenconi, R. Tenconi, N. Carlomagno, 1998, Cancer research.

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

S. Bianca, R. Tenconi, T. Mazza, 2021, International journal of molecular sciences.

Advances in Brief STK 11 Mutations in Peutz-Jeghers Syndrome and Sporadic Colon Cancer 1

R. Tenconi, N. Carlomagno, C. Simone, 2006 .

Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex.

C. Junien, R. Tenconi, J. Dufier, 1980, Annales de genetique.

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.

Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11←q13) segment of chromosome 2

R. Tenconi, C. Baccichetti, E. Lenzini, 1980 .

International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies.

Guido Cocchi, Pierpaolo Mastroiacovo, Björn Jonsson, 2010, Birth defects research. Part A, Clinical and molecular teratology.

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

R. Tenconi, E. Lucci-Cordisco, G. Neri, 2007, Genomics.

Chorioretinal coloboma and Joubert syndrome: a nonrandom association.

R. Tenconi, M. Clementi, P. Drigo, 1984, The Journal of pediatrics.

Popliteal pterygium syndrome presenting with orofacial abnormalities. Report of a family.

R. Tenconi, M. Clementi, G. Cordioli, 1984, Journal of maxillofacial surgery.

Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved

R. Tenconi, D. Smeets, M. Clementi, 1996, Human Genetics.

Methimazole embryopathy: delineation of the phenotype.

R. Tenconi, M. Clementi, I. Mammi, 1999, American journal of medical genetics.

Neurofibromatosis type 1 growth charts.

R. Tenconi, M. Clementi, I. Mammi, 1999, American journal of medical genetics.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Fraser Syndrome: Epidemiological Study in a

M. Loane, S. Bianca, R. Tenconi, 2013 .

Three cases with de novo 6q imbalance and variable prenatal phenotype

R. Tenconi, I. Cetin, F. Lalatta, 2005, American journal of medical genetics. Part A.

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

R. Tenconi, R. Giorda, O. Zuffardi, 2007, Journal of Medical Genetics.

Partial deletion of the short arm of chromosome 12(p11; p13). Report of a case.

C. Junien, F. Anglani, R. Tenconi, 1975, Annales de genetique.

FAMILIAL 4/22 TRANSLOCATION WITH PARTIAL TRISOMY FOR THE SHORT ARM OF CHROMOSOME 4 IN TWO SIBS

R. Tenconi, C. Baccichetti, G. Pujatti, 1974, Acta paediatrica Scandinavica.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

Clinical and genetic heterogeneity in Meckel syndrome

L. Peltonen, R. Salonen, R. Tenconi, 1997, Human Genetics.

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

R. Tenconi, G. Floridia, M. Clementi, 1993, Human Genetics.

Neonatal growth patterns in a population of consecutively born Down syndrome children.

R. Tenconi, E. Calzolari, M. Clementi, 2005, American journal of medical genetics. Supplement.

Ultrastructure of metachromatic fibroblasts.

R. Tenconi, C. Baccichetti, E. Sartouri, 1972, American journal of diseases of children.

A study of the impact of agricultural pesticide use on the prevalence of birth defects in northeast Italy.

R. Tenconi, A. Mantovani, M. Clementi, 2007, Reproductive toxicology.

Complex segregation analysis in a sample of consecutive newborns with cleft lip with or without cleft palate in Italy.

R. Tenconi, E. Calzolari, M. Clementi, 1995, Human heredity.

Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns.

R. Tenconi, M. Clementi, L. Turolla, 1988, Journal of medical genetics.

Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy.

R. Tenconi, A. Schinzel, W. Schmid, 1983, American journal of medical genetics.

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

M. Rocchi, G. Gimelli, R. Tenconi, 1982, Human Genetics.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

Marni J. Falk, Gerard C. P. Schaafsma, R. Kumar, 2012, Human mutation.

CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes

R. Tenconi, L. Chieco‐Bianchi, M. Clementi, 1999, Human Genetics.

Syndrome +12p

R. Tenconi, C. Baccichetti, E. Piovan, 1977, Human Genetics.

Trisomy 12p due to an adjacent 1 segregation of a maternal reciprocal translocation t(12;18) (p11;q23).

R. Tenconi, E. Tarantino, P. Giorgi, 1978, Annales de genetique.

Study on Segregation and Risk for Abnormal Offspring in Carriers of Pericentric Inversion of the (p11 —* q13) Segment of Chromosome 2

R. Tenconi, A. Peserico, C. Baccichetti, 1981 .

[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12].

C. Junien, R. Tenconi, J. Lejeune, 1976, Annales de genetique.

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

R. Ravazzolo, S. Antonarakis, S. Gimelli, 2010, Genetics in Medicine.

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

M. Rocchi, R. Tenconi, M. Clementi, 2003, American journal of medical genetics. Part A.

A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease

R. Tenconi, E. Trevisson, S. Sartori, 2006, Neurogenetics.

Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis

R. Tenconi, V. Bordoni, M. Tartaglia, 1999, Child's Nervous System.

X‐linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple

R. Tenconi, E. Trevisson, M. Clementi, 2009, American journal of medical genetics. Part A.

Tryptophan Metabolites, Cytokines, and Fatty Acid Binding Protein 2 in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome

R. Tenconi, D. Bruttomesso, S. Comai, 2021, Biomedicines.

766 cases of oral cleft in Italy

R. Tenconi, E. Calzolari, M. Clementi, 1994, European Journal of Epidemiology.

Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

R. Tenconi, M. Clementi, I. Mammi, 1993, American journal of medical genetics.

How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

R. Tenconi, M. Clementi, L. Turolla, 1990, Journal of medical genetics.

Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance.

R. Tenconi, M. Clementi, L. Notari, 1996, American journal of medical genetics.

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene.

P. Pignatti, R. Tenconi, M. Clementi, 1996, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries

F. Bianchi, R. Tenconi, C. Stoll, 2000, Prenatal diagnosis.

Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.

R. Tenconi, M. Clementi, F. Benedicenti, 2003, American journal of medical genetics. Part A.

Down Syndrome and Parity

S. Bianca, R. Tenconi, M. Clementi, 1999, Public Health Genomics.

R. Tenconi, M. Koenig, P. Calvas, 2019, Journal of Neurology.

Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up

R. Tenconi, S. Sartori, L. Salviati, 2010, Journal of child neurology.

Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy?

R. Tenconi, M. Clementi, A. Miotti, 1986, American journal of medical genetics.

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

R. Tenconi, R. Alaggio, O. Zuffardi, 2006, American journal of human genetics.

Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy

R. Tenconi, E. Di Maria, 2010, American Journal of Medical Genetics. Part A.

Chorio‐retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome

R. Tenconi, M. Clementi, G. Casara, 1981, Clinical genetics.

The familial adenomatous polyposis region exhibits many different haplotypes

R. Tenconi, V. Gismondi, L. Varesco, 1998, Human Genetics.

Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly.

R. Tenconi, M. Clementi, A. Andrisani, 2006, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

Study on segregation of the inversion of chromosome 4 (p15.2q11) in two unrelated families

R. Tenconi, C. Baccichetti, L. Bortotto, 2004, Human Genetics.

Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality

F. Anglani, R. Tenconi, C. Baccichetti, 1984, Clinical genetics.

Re: "parity and the risk of Down's syndrome".

S. Bianca, R. Tenconi, M. Clementi, 2004, American journal of epidemiology.

Screening test for Y chromosome in newborn using urinary epithelial cells.

R. Tenconi, C. Baccichetti, G. Largaiolli, 1971, Lancet.

Cardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity?

R. Tenconi, M. Clementi, I. Mammi, 1998, Acta ophthalmologica Scandinavica.

FURTHER INVESTIGATIONS WHEN ABDOMINAL WALL DEFECTS ARE DIAGNOSED IN UTERO

R. Tenconi, A. Czeizel, M. Clementi, 1983, The Lancet.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

R. Tenconi, J. Wierzba, A. Selicorni, 2021, Cell death discovery.

Lithium ameliorates Cornelia de Lange syndrome associated phenotypes in experimental models

R. Tenconi, J. Wierzba, A. Selicorni, 2020, bioRxiv.

Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries

F. Bianchi, R. Tenconi, C. Stoll, 2000, Prenatal diagnosis.

Microphthalmia-congenital anterior polar cataract. An autosomal dominant syndrome.

R. Tenconi, M. Clementi, A. Rossetti, 1985, Ophthalmic paediatrics and genetics.

Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association.

R. Tenconi, F. Causin, A. Suppiej, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2

Munro, C. S. Coleman, R. Tenconi, 1998, The British journal of dermatology.

Linkage analysis of neurofibromatosis type 1

F. Anglani, R. Tenconi, M. Clementi, 2005, Human Genetics.

A CASE OF FEMUR-FIBULAR-ULNA COMPLEX WITH PECULIAR METAPHYSEAL CHANGES

R. Tenconi, R. Salmaso, K. Ludwig, 2010, Fetal and pediatric pathology.

Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus

R. Tenconi, E. Calzolari, P. Forabosco, 1997, Human Genetics.

Enhancing effect of low frequency pulsed electromagnetic fields on lectin-induced human lymphocyte proliferation

C. Franceschi, R. Tenconi, M. Cantini, 1986 .

Toward the effective surveillance of hypospadias.

M. Vrijheid, M. Loane, R. Tenconi, 2003, Environmental health perspectives.

Paternal origin of LMNA mutations in Hutchinson–Gilford progeria

R. Tenconi, G. Novelli, I. Mammi, 2003, Clinical genetics.

Trisomy lq and Hematologic Disorders

F. Anglani, R. Tenconi, L. Zanesco, 1981 .