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List of works by Andrea Superti-Furga

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

scientific article

A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype

scientific article

A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients

scientific article published on 11 March 2009

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.

scientific article published on 24 June 2010

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

scientific article

A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Ku

scientific article published on 01 June 2007

A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family

scientific article published on 01 July 2018

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

scientific article published on 23 April 2019

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

article

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases

scientific article published in April 2010

Acampomelic form of campomelic dysplasia with SOX9 missense mutation

scientific article published on 7 April 2013

Achondrogenesis Type 1B

scientific article published on 14 November 2013

An 11-month-old boy with psychomotor regression and auto-aggressive behaviour ⬇️

scientific article published on May 16, 2003

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs

scientific article published on 12 June 2020

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis

scientific article (publication date: September 2002)

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

scientific article published on 19 May 2015

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

scientific article published on 22 January 2021

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

scientific article published on 12 May 2017

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

scientific article (publication date: 15 October 2003)

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

scientific article published in June 2005

Axial spondylometaphyseal dysplasia: additional reports

scientific article published on 09 September 2011

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

scientific article published on 26 May 2016

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration

scientific article published on 04 January 2021

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach

scientific article published on 30 September 2016

Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view

scientific article published on 25 July 2019

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

scientific article

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

scientific article published on 30 October 2010

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome

scientific journal article

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome ⬇️

scientific article

COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

scientific article published on 03 December 2019

Campomelic Dysplasia

scientific article published on 9 May 2013

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

scientific article published on 13 January 2020

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

scientific article

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders

scientific article published on 04 January 2021

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

scientific article published on 7 September 2016

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.

scientific article

Clinical and radiographic delineation of odontochondrodysplasia

scientific article published in 2008

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

scientific article published on 20 March 2020

Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

scientific article published on 18 August 2020

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

scientific article published on 28 February 2018

Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type

scientific article published on 04 October 2018

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis.

scientific article published in August 2008

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

scientific article published on June 2008

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder

scientific article published on 26 June 2014

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

scientific article published on 26 November 2016

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways.

scientific article published on 13 November 2008

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

scientific article published in May 2017

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

scientific journal article

Current themes in molecular pediatrics: molecular medicine and its applications

scientific article

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

scientific article published in October 2017

Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy

scientific article published on 01 August 2005

Diastrophic Dysplasia

scientific article published on 18 July 2013

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

scientific article published on 01 January 2019

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

scientific article

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

scientific article

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country

article by Sheela Nampoothiri et al published September 2014 in American Journal of Medical Genetics

Enchondromatosis revisited: New classification with molecular basis ⬇️

scientific article published on July 12, 2012

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

scientific article

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

scientific article

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

scientific article published on 21 December 2019

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene

article

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

scientific article published on 16 May 2013

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

scientific article published on 12 May 2005

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Filamin A mutation is one cause of FG syndrome.

scientific article published in August 2007

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in thePORCNgene (c.1250T>C:p.F417S) and unusual spinal anomaly

scientific article published on 21 May 2013

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

scientific article published on 01 August 2006

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)

Gamma-hydroxybutyric acid

scientific article published on 01 October 2005

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

scientific article published on 9 January 2011

Glutaric aciduria type 1 and neonatal screening: time to proceed?with caution ⬇️

scientific article published on October 25, 2003

Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual

scientific article published on 14 June 2018

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

scientific article published on 16 August 2013

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

scientific article published on 21 November 2019

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

scientific article published on December 2009

Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

scientific article

Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease ⬇️

scientific article published on October 5, 2010

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

scientific article published on 07 February 2019

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

Identification of mutations in CUL7 in 3-M syndrome

scientific article

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

scientific article published on 9 January 2011

In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation

scientific article

Insights from a transgenic mouse model on the role of SLC26A2 in health and disease

scientific article published on 01 January 2006

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

scientific article published on 15 November 2018

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

scientific article

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

scientific journal article

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications

scientific article published on 02 August 2013

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

scientific article (publication date: July 2011)

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

scientific article

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

scientific article published on 15 September 2016

MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients ⬇️

scientific article published on May 26, 2012

Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

scientific article published in January 2005

Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins

scientific article

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

scientific article published on 17 March 2011

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

scientific article published on 03 December 2004

Multiple Epiphyseal Dysplasia, Recessive

scientific article published on 23 January 2014

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

scientific article published on March 2008

Multiple sulfatase deficiency with neonatal manifestation

scientific article

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

scientific article

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism

scientific article

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

scientific article published on 9 May 2013

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

scientific article

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

scientific article

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

scientific article published in November 2017

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia

scientific article published on 16 July 2009

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

scientific article

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

scientific article

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

scientific article

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

scientific article published on 29 February 2004

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

scientific article

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

scientific article

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

scientific article published on 28 May 2009

Mutations in two regions of FLNB result in atelosteogenesis I and III.

scientific article published in July 2006

Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome

scientific article published on 21 March 2015

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

scientific article published on 23 May 2016

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

scientific article published on 19 August 2015

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges

scientific article published on 06 May 2021

Natural history and life-threatening complications in Myhre syndrome and review of the literature

scientific article

New topics in the skeletal dysplasias

scientific article published on 12 July 2012

News in paediatrics

scientific article

Next generation sequencing : a diagnostic tool for inherited immune defects

scientific article published in April 2017

Nosology and classification of genetic skeletal disorders: 2006 revision

scientific article published on 01 January 2007

Nosology and classification of genetic skeletal disorders: 2010 revision.

scientific article

Nosology and classification of genetic skeletal disorders: 2015 revision

scientific article published on 23 September 2015

Nosology and classification of genetic skeletal disorders: 2019 revision

scientific article published on 21 October 2019

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

scientific article published on 07 April 2016

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

scientific journal article

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

scientific article

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia

scientific article

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

scientific article published on 24 May 2019

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

scientific article published on 01 December 2004

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type

scientific article published on 11 June 2010

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

scientific article published on 01 October 2010

Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma

scientific article

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation

scientific article published on 05 August 2014

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

scientific article

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

scientific article published on 29 November 2006

Progressive pseudorheumatoid dysplasia: a rare childhood disease

scientific article published on 16 October 2018

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

scientific article published on 08 August 2018

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

scientific article published on 10 January 2013

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

scientific article published on 29 May 2012

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

scientific article

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

scientific article published in December 2007

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report

scientific article published in 2010

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

scientific article published on December 2011

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

scientific article published on 30 September 2011

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

scientific article published on 12 October 2019

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia

scientific article published on 17 July 2012

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up

scientific article published on 03 March 2015

Skeletal Dysplasias Caused by Sulfation Defects

scientific article published on 14 April 2020

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

scientific article

Spondylo-ocular syndrome: a new entity involving the eye and spine

scientific article published on 01 March 2006

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder

scientific article published in March 2006

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

scientific article

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

scientific article

TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome

scientific article

TRPV4-associated skeletal dysplasias

scientific article

TRPV4-pathy, a novel channelopathy affecting diverse systems

scientific article

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

scientific article published on 14 April 2020

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

scientific article published on 02 July 2019

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

scientific article

The dark sides of capillary morphogenesis gene 2.

scientific article published on 6 December 2011

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

scientific article published on 12 July 2012

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

scientific article

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

scientific article published on 28 May 2009

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

scientific article

Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

scientific article

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

scientific article published on 26 August 2017

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