Cecilia Giunta: шукати на сайті Z-Library

Porter, Louise F., Gallego-Pinazo, Roberto, Keeling, Catherine L., Kamieniorz, Martyna, Zoppi, Nicoletta, Colombi, Marina, Giunta, Cecilia, Bonshek, Richard, Manson, Forbes D., Black, Graeme C.

Рік:

2012

Мова:

english

Файл:

PDF, 1.34 MB

english, 2012

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

Журнал:

Orphanet Journal of Rare Diseases

Рік:

2015

Мова:

english

Файл:

PDF, 2.17 MB

english, 2015

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

Lindert, Uschi, Kraenzlin, Marius, Campos-Xavier, Ana Belinda, Baumgartner, Matthias R., Bonafé, Luisa, Giunta, Cecilia, Rohrbach, Marianne

Журнал:

Orphanet Journal of Rare Diseases

Рік:

2015

Мова:

english

Файл:

PDF, 475 KB

english, 2015

Osteogenesis Imperfecta || Arthrochalasis Type of Ehlers–Danlos Syndrome (EDS Types VIIA and VIIB) and Related Disorders

Giunta, Cecilia

Рік:

2014

Мова:

english

Файл:

PDF, 1.94 MB

english, 2014

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Rymen, Daisy, Ritelli, Marco, Zoppi, Nicoletta, Cinquina, Valeria, Giunta, Cecilia, Rohrbach, Marianne, Colombi, Marina

Журнал:

Genes

Рік:

2019

Мова:

english

Файл:

PDF, 1.83 MB

english, 2019

Sibs affected with both Ehlers-Danlos syndrome type VI and cystic fibrosis

Jarisch, Andrea, Giunta, Cecilia, Zielen, Stefan, K�nig, Rainer, Steinmann, Beat

Журнал:

American Journal of Medical Genetics

Рік:

1998

Мова:

english

Файл:

PDF, 352 KB

english, 1998

Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution inCOL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?

Giunta, Cecilia, Steinmann, Beat

Журнал:

American Journal of Medical Genetics

Рік:

2000

Мова:

english

Файл:

PDF, 410 KB

english, 2000

The devil of the one letter code and the Ehlers-Danlos syndrome: Corrigendum

Beat Steinmann, Cecilia Giunta

Журнал:

Cecilia Giunta, Beat Steinmann

Рік:

2000

Мова:

english

Файл:

PDF, 42 KB

english, 2000

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays

Журнал:

Hailah Al-Hussain, Steffen M. Zeisberger, Peter R. Huber, Cecilia Giunta, Beat Steinmann

Рік:

2000

Мова:

english

Файл:

PDF, 304 KB

english, 2000

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature

Журнал:

Cecilia Giunta, Ann Randolph, Lihadh I. Al-Gazali, Han G. Brunner, Marius E. Kraenzlin, Beat Steinmann

Рік:

2004

Мова:

english

Файл:

PDF, 147 KB

english, 2004

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)

Журнал:

Cecilia Giunta, Céline Chambaz, Marina Pedemonte, Sara Scapolan, Beat Steinmann

Рік:

2005

Мова:

english

Файл:

PDF, 145 KB

english, 2005

The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure

Журнал:

Gábor Mátyás, Cecilia Giunta, Beat Steinmann, Johann Peter Hossle, Robert Hellwig

Рік:

2008

Мова:

english

Файл:

PDF, 345 KB

english, 2008

Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis

Журнал:

Рік:

2002

Мова:

english

Файл:

PDF, 498 KB

english, 2002

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Víctor Martínez-Glez, Maria Valencia, José A. Caparrós-Martín, Mona Aglan, Samia Temtamy, Jair Tenorio, Veronica Pulido, Uschi Lindert, Marianne Rohrbach, David Eyre, Cecilia Giunta, Pablo Lapunzina,

Журнал:

Rita Kretz, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Marianne Rohrbach, Ingrid Hausser, Alessandra Baumer, Matthias Baumgartner, Cecilia Giunta, Ariana Kariminejad, Johannes Häberle

Рік:

2012

Мова:

english

Файл:

PDF, 383 KB

english, 2012

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

Kathryn P. Burdon, Douglas J. Coster, Jac C. Charlesworth, Richard A. Mills, Kate J. Laurie, Cecilia Giunta, Alex W. Hewitt, Paul Latimer, Jamie E. Craig

Журнал:

Human Genetics

Рік:

2008

Мова:

english

Файл:

PDF, 469 KB

english, 2008

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Журнал:

Journal of Inherited Metabolic Disease

Рік:

2011

Мова:

english

Файл:

PDF, 548 KB

english, 2011

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Meienberg, Janine, Rohrbach, Marianne, Neuenschwander, Stefan, Spanaus, Katharina, Giunta, Cecilia, Alonso, Sira, Arnold, Eliane, Henggeler, Caroline, Regenass, Stephan, Patrignani, Andrea

Журнал:

European Journal of Human Genetics

Рік:

2010

Мова:

english

Файл:

PDF, 550 KB

english, 2010

RAPD analysis of systematic relationships among the Cervidae

Comincini, Sergio, Sironi, Massimo, Bandi, Claudio, Giunta, Cecilia, Rubini, Michele, Fontana, Francesco

Журнал:

Heredity

Рік:

1996

Мова:

english

Файл:

PDF, 245 KB

english, 1996

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

Marianne Rohrbach, Cecilia Giunta

Журнал:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 333 KB

english, 2012

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Cecilia Giunta, Nursel H. Elçioglu, Beate Albrecht, Georg Eich, Céline Chambaz, Andreas R. Janecke, Heather Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 1.49 MB

english, 2008

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Jutta Becker, Oliver Semler, Christian Gilissen, Yun Li, Hanno Jörn Bolz, Cecilia Giunta, Carsten Bergmann, Marianne Rohrbach, Friederike Koerber, Katharina Zimmermann, Petra de Vries, Brunhilde Wirth

Журнал:

Cecilia Graschinsky, Pablo Giunta, Norma Amadeo, Miguel Laborde

Рік:

2011

Мова:

english

Файл:

PDF, 758 KB

english, 2011

Thermodynamic analysis of hydrogen production by autothermal reforming of ethanol

Журнал:

International Journal of Hydrogen Energy

Рік:

2012

Мова:

english

Файл:

PDF, 1.34 MB

english, 2012

Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI)

Uluç Yiş, Eray Dirik, Cèline Chambaz, Beat Steinmann, Cecilia Giunta

Журнал:

Neuromuscular Disorders

Рік:

2008

Мова:

english

Файл:

PDF, 457 KB

english, 2008

Response

Cecilia Giunta, Uluç Yiş, Beat Steinmann

Журнал:

Neuromuscular Disorders

Рік:

2008

Мова:

english

Файл:

PDF, 38 KB

english, 2008

Mutation analysis of the PLOD1 gene: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)

Cecilia Giunta, Ann Randolph, Beat Steinmann

Журнал:

Molecular Genetics and Metabolism

Рік:

2005

Мова:

english

Файл:

PDF, 383 KB

english, 2005

COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

Richard J. Wenstrup, Jane B. Florer, Marcia C. Willing, Cecilia Giunta, Beat Steinmann, Felix Young, Miki Susic, William G. Cole

Журнал:

Рік:

2000

Мова:

english

Файл:

PDF, 539 KB

english, 2000

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

Matthias R. Baumgartner, M.Fernanda Dantas, Terttu Suormala, Shlomo Almashanu, Cecilia Giunta, Dolores Friebel, Boris Gebhardt, Brian Fowler, Georg F. Hoffmann, E.Regula Baumgartner, David Valle

Журнал:

Martinelli, Diego, Häberle, Johannes, Rubio, Vicente, Giunta, Cecilia, Hausser, Ingrid, Carrozzo, Rosalba, Gougeard, Nadine, Marco-Marín, Clara, Goffredo, Bianca M., Meschini, Maria Chiara, Bevivino,

Рік:

2004

Мова:

english

Файл:

PDF, 473 KB

english, 2004

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

Журнал:

Journal of Inherited Metabolic Disease

Рік:

2012

Мова:

english

Файл:

PDF, 1.21 MB

english, 2012

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV

Eder, Johanna, Laccone, Franco, Rohrbach, Marianne, Giunta, Cecilia, Aumayr, Klaus, Reichel, Christofer, Trautinger, Franz

Журнал:

Experimental Dermatology

Рік:

2013

Мова:

english

Файл:

PDF, 739 KB

english, 2013

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

Abdalla, Ebtesam M., Rohrbach, Marianne, Bürer, Céline, Kraenzlin, Marius, El-Tayeby, Hazem, Elbelbesy, Mervat F., Nabil, Amira, Giunta, Cecilia

Журнал:

European Journal of Pediatrics

Рік:

2015

Мова:

english

Файл:

PDF, 1.29 MB

english, 2015

Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

Burda, Patricie, Schäfer, Alexandra, Suormala, Terttu, Rummel, Till, Bürer, Céline, Heuberger, Dorothea, Frapolli, Michele, Giunta, Cecilia, Sokolová, Jitka, Vlášková, Hana, Kožich, Viktor, Koch, Hans

Журнал:

Journal of Biological Chemistry

Рік:

2015

Мова:

english

Файл:

PDF, 813 KB

english, 2015

Genotype–phenotype study in type V osteogenesis imperfecta

Balasubramanian, Meena, Parker, Michael J., Dalton, Ann, Giunta, Cecilia, Lindert, Uschi, Peres, Luiz C., Wagner, Bart E., Arundel, Paul, Offiah, Amaka, Bishop, Nicholas J.

Журнал:

Clinical Dysmorphology

Рік:

2013

Мова:

english

Файл:

PDF, 716 KB

english, 2013

Molecular Consequences of the SERPINH1 /HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

Lindert, Uschi, Weis, Mary Ann, Rai, Jyoti, Seeliger, Frank, Hausser, Ingrid, Leeb, Tosso, Eyre, David, Rohrbach, Marianne, Giunta, Cecilia

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 3.22 MB

english, 2015

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

Van Damme, Tim, Colige, Alain, Syx, Delfien, Giunta, Cecilia, Lindert, Uschi, Rohrbach, Marianne, Aryani, Omid, Alanay, Yasemin, Simsek-Kiper, Pelin Özlem, Kroes, Hester Y., Devriendt, Koen, Thiry, Ma

Журнал:

Genetics in Medicine

Рік:

2016

Мова:

english

Файл:

PDF, 1.87 MB

english, 2016

Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study

Gaisl, Thomas, Giunta, Cecilia, Bratton, Daniel J, Sutherland, Kate, Schlatzer, Christian, Sievi, Noriane, Franzen, Daniel, Cistulli, Peter A, Rohrbach, Marianne, Kohler, Malcolm

Журнал:

Thorax

Рік:

2017

Мова:

english

Файл:

PDF, 368 KB

english, 2017

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Karim

Журнал:

Genetics in Medicine

Рік:

2017

Мова:

english

Файл:

PDF, 1.70 MB

english, 2017

Placental Tissue in Colon and Liver

Mengoli, Maria Cecilia, Zanelli, Magda, Zizzo, Maurizio, Giunta, Alessandro, Cerami, Lillo Bruno, Cavazza, Alberto, Mengoli, Maria Chiara, De Marco, Loredana

Журнал:

International Journal of Surgical Pathology

Рік:

2018

Мова:

english

Файл:

PDF, 314 KB

english, 2018

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Vahidnezhad, Hassan, Youssefian, Leila, Saeidian, Amir Hossein, Touati, Andrew, Pajouhanfar, Sara, Baghdadi, Taghi, Shadmehri, Azam Ahmadi, Giunta, Cecilia, Kraenzlin, Marius, Syx, Delfien, Malfait, F

Журнал:

Matrix Biology

Рік:

2018

Мова:

english

Файл:

PDF, 28.46 MB

english, 2018

Uncommon splenic mass with a distinctive appearance

Zanelli, Magda, Mengoli, Maria Cecilia, Zizzo, Maurizio, De Marco, Loredana, Menozzi, Guido, Giunta, Alessandro, Ascani, Stefano

Журнал:

ANZ Journal of Surgery

Рік:

2018

Мова:

english

Файл:

PDF, 523 KB

english, 2018

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome

Stöberl, Anna S., Gaisl, Thomas, Giunta, Cecilia, Sievi, Noriane A., Singer, Florian, Möller, Alexander, Rohrbach, Marianne, Kohler, Malcolm

Журнал:

Respiration

Рік:

2018

Мова:

english

Файл:

PDF, 271 KB

english, 2018

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions

Ishikawa, Yoshihiro, Mizuno, Nobuyo, Holden, Paul, Lim, Pei Jin, Gould, Douglas B., Rohrbach, Marianne, Giunta, Cecilia, Bächinger, Hans Peter

Журнал:

Scientific Reports

Рік:

2020

Мова:

english

Файл:

PDF, 2.94 MB

english, 2020

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia EhlersâDanlos syndrome

Ayoub, Sandy, Ghali, Neeti, Angwin, Chloe, Baker, Duncan, Baffini, Stella, Brady, Angela F., Giovannucci Uzielli, Maria Luisa, Giunta, Cecilia, Johnson, Diana S., Kosho, Tomoki, Neas, Katherine, Pope,

Журнал: