Results
|
|
41.
|
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. [electronic resource] by
- Forlino, Antonella
- Piazza, Rocco
- Tiveron, Cecilia
- Della Torre, Sara
- Tatangelo, Laura
- Bonafè, Luisa
- Gualeni, Benedetta
- Romano, Assunta
- Pecora, Fabio
- Superti-Furga, Andrea
- Cetta, Giuseppe
- Rossi, Antonio
Producer: 20050728
In:
Human molecular genetics vol. 14
Availability: No items available.
|
|
|
42.
|
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. [electronic resource] by
- Bonafé, Luisa
- Dermitzakis, Emmanouil T
- Unger, Sheila
- Greenberg, Cheryl R
- Campos-Xavier, Belinda A
- Zankl, Andreas
- Ucla, Catherine
- Antonarakis, Stylianos E
- Superti-Furga, Andrea
- Reymond, Alexandre
Producer: 20060717
In:
PLoS genetics vol. 1
Availability: No items available.
|
|
|
43.
|
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report. [electronic resource] by
- Zappu, Antonietta
- Lepori, Maria Barbara
- Incollu, Simona
- Dessì, Valentina
- Noli, Maria Cristina
- Mameli, Eva
- Bonafé, Luisa
- Garcia Dépraz, Nuria
- De Virgiliis, Stefano
- Cao, Antonio
- Loudianos, Georgios
Producer: 20120717
In:
Molecular and cellular probes vol. 26
Availability: No items available.
|
|
|
44.
|
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. [electronic resource] by
- Renella, Raffaele
- Schaefer, Elke
- LeMerrer, Martine
- Alanay, Yasemin
- Kandemir, Nurgun
- Eich, Georg
- Costa, Teresa
- Ballhausen, Diana
- Boltshauser, Eugen
- Bonafé, Luisa
- Giedion, Andres
- Unger, Sheila
- Superti-Furga, Andrea
Producer: 20060530
In:
American journal of medical genetics. Part A vol. 140
Availability: No items available.
|
|
|
45.
|
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach. [electronic resource] by
- Pichler, Karin
- Karall, Daniela
- Kotzot, Dieter
- Steichen-Gersdorf, Elisabeth
- Rümmele-Waibel, Alexandra
- Mittaz-Crettol, Laureane
- Wanschitz, Julia
- Bonafé, Luisa
- Maurer, Kathrin
- Superti-Furga, Andrea
- Scholl-Bürgi, Sabine
Publication details: Scientific reports Sep 2016
In:
Scientific reports vol. 6
Availability: No items available.
|
|
|
46.
|
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. [electronic resource] by
- García Segarra, Nuria
- Gautschi, Ivan
- Mittaz-Crettol, Laureane
- Kallay Zetchi, Christine
- Al-Qusairi, Lama
- Van Bemmelen, Miguel Xavier
- Maeder, Philippe
- Bonafé, Luisa
- Schild, Laurent
- Roulet-Perez, Eliane
Producer: 20150406
In:
Journal of the neurological sciences vol. 342
Availability: No items available.
|
|
|
47.
|
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose? [electronic resource] by
- Debray, François-Guillaume
- Damjanovic, Katarina
- Rosset, Robin
- Mittaz-Crettol, Lauréane
- Roux, Clothilde
- Braissant, Olivier
- Barbey, Frédéric
- Bonafé, Luisa
- De Bandt, Jean-Pascal
- Tappy, Luc
- Paquot, Nicolas
- Tran, Christel
Producer: 20190812
In:
The American journal of clinical nutrition vol. 108
Availability: No items available.
|
|
|
48.
|
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. [electronic resource] by
- Zankl, Andreas
- Neumann, Luitgard
- Ignatius, Jaako
- Nikkels, Peter
- Schrander-Stumpel, Connie
- Mortier, Geert
- Omran, Heymut
- Wright, Michael
- Hilbert, Katja
- Bonafé, Luisa
- Spranger, Juergen
- Zabel, Bernhard
- Superti-Furga, Andrea
Producer: 20050511
In:
American journal of medical genetics. Part A vol. 133A
Availability: No items available.
|
|
|
49.
|
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual. [electronic resource] by
- Voinea, Camelia
- Gonzalez Rodriguez, Elena
- Beigelman-Aubry, Catherine
- Leroy, Victor
- Aubry-Rozier, Bérengère
- Campos-Xavier, Belinda
- Ballhausen, Diana
- Lazor, Romain
- Barbey, Frédéric
- Bonafé, Luisa
- Superti-Furga, Andrea
- Tran, Christel
Producer: 20190506
In:
Journal of bone and mineral metabolism vol. 37
Availability: No items available.
|
|
|
50.
|
|
|
|
51.
|
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. [electronic resource] by
- Catteruccia, Michela
- Verrigni, Daniela
- Martinelli, Diego
- Torraco, Alessandra
- Agovino, Teresa
- Bonafé, Luisa
- D'Amico, Adele
- Donati, Maria Alice
- Adorisio, Rachele
- Santorelli, Filippo Maria
- Carrozzo, Rosalba
- Bertini, Enrico
- Dionisi-Vici, Carlo
Producer: 20150212
In:
Molecular genetics and metabolism vol. 111
Availability: No items available.
|
|
|
52.
|
Nosology and classification of genetic skeletal disorders: 2015 revision. [electronic resource] by
- Bonafe, Luisa
- Cormier-Daire, Valerie
- Hall, Christine
- Lachman, Ralph
- Mortier, Geert
- Mundlos, Stefan
- Nishimura, Gen
- Sangiorgi, Luca
- Savarirayan, Ravi
- Sillence, David
- Spranger, Jürgen
- Superti-Furga, Andrea
- Warman, Matthew
- Unger, Sheila
Producer: 20161017
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
|
|
|
53.
|
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? [electronic resource] by
- Lebon, Sébastien
- Suarez, Philippe
- Alija, Semsa
- Korff, Christian M
- Fluss, Joël
- Mercati, Danielle
- Datta, Alexandre N
- Poloni, Claudia
- Marcoz, Jean-Pierre
- Campos-Xavier, Ana Belinda
- Bonafé, Luisa
- Roulet-Perez, Eliane
Producer: 20160401
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 19
Availability: No items available.
|
|
|
54.
|
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. [electronic resource] by
- Deuquet, Julie
- Lausch, Ekkehart
- Guex, Nicolas
- Abrami, Laurence
- Salvi, Suzanne
- Lakkaraju, Asvin
- Ramirez, Maria Celeste M
- Martignetti, John A
- Rokicki, Dariusz
- Bonafe, Luisa
- Superti-Furga, Andrea
- van der Goot, Françoise G
Producer: 20110805
In:
EMBO molecular medicine vol. 3
Availability: No items available.
|
|
|
55.
|
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. [electronic resource] by
- Mendoza-Londono, Roberto
- Chitayat, David
- Kahr, Walter H A
- Hinek, Aleksander
- Blaser, Susan
- Dupuis, Lucie
- Goh, Elaine
- Badilla-Porras, Ramses
- Howard, Andrew
- Mittaz, Laureane
- Superti-Furga, Andrea
- Unger, Sheila
- Nishimura, Gen
- Bonafe, Luisa
Producer: 20120924
In:
American journal of medical genetics. Part A vol. 158A
Availability: No items available.
|
|
|
56.
|
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. [electronic resource] by
- Nampoothiri, Sheela
- Yesodharan, Dhanya
- Sainulabdin, Gazel
- Narayanan, Dhanyalakshmi
- Padmanabhan, Laxmi
- Girisha, Katta Mohan
- Cathey, Sara S
- De Paepe, Anne
- Malfait, Fransiska
- Syx, Delfien
- Hennekam, Raoul C
- Bonafe, Luisa
- Unger, Sheila
- Superti-Furga, Andrea
Producer: 20150420
In:
American journal of medical genetics. Part A vol. 164A
Availability: No items available.
|
|
|
57.
|
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. [electronic resource] by
- Hermanns, Pia
- Unger, Sheila
- Rossi, Antonio
- Perez-Aytes, Antonio
- Cortina, Hector
- Bonafé, Luisa
- Boccone, Loredana
- Setzu, Valeria
- Dutoit, Michel
- Sangiorgi, Luca
- Pecora, Fabio
- Reicherter, Kerstin
- Nishimura, Gen
- Spranger, Jürgen
- Zabel, Bernhard
- Superti-Furga, Andrea
Producer: 20080627
In:
American journal of human genetics vol. 82
Availability: No items available.
|
|
|
58.
|
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. [electronic resource] by
- Bonafé, Luisa
- Kariminejad, Ariana
- Li, Jia
- Royer-Bertrand, Beryl
- Garcia, Virginie
- Mahdavi, Shokouholsadat
- Bozorgmehr, Bita
- Lachman, Ralph L
- Mittaz-Crettol, Lauréane
- Campos-Xavier, Belinda
- Nampoothiri, Sheela
- Unger, Sheila
- Rivolta, Carlo
- Levade, Thierry
- Superti-Furga, Andrea
Producer: 20170707
In:
Arthritis & rheumatology (Hoboken, N.J.) vol. 68
Availability: No items available.
|
|
|
59.
|
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis. [electronic resource] by
- Lepori, Maria-Barbara
- Zappu, Antonietta
- Incollu, Simona
- Dessì, Valentina
- Mameli, Eva
- Demelia, Luigi
- Nurchi, Anna Maria
- Gheorghe, Liana
- Maggiore, Giuseppe
- Sciveres, Marco
- Leuzzi, Vincenzo
- Indolfi, Giuseppe
- Bonafé, Luisa
- Casali, Carlo
- Angeli, Paolo
- Barone, Patrizia
- Cao, Antonio
- Loudianos, Georgios
Producer: 20130215
In:
Molecular and cellular probes vol. 26
Availability: No items available.
|
|
|
60.
|
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. [electronic resource] by
- Royer-Bertrand, Beryl
- Castillo-Taucher, Silvia
- Moreno-Salinas, Rodrigo
- Cho, Tae-Joon
- Chae, Jong-Hee
- Choi, Murim
- Kim, Ok-Hwa
- Dikoglu, Esra
- Campos-Xavier, Belinda
- Girardi, Enrico
- Superti-Furga, Giulio
- Bonafé, Luisa
- Rivolta, Carlo
- Unger, Sheila
- Superti-Furga, Andrea
Producer: 20160919
In:
Scientific reports vol. 5
Availability: No items available.
|