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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Published in:
2011
By:
- Andreucci, Elena;
- Aftimos, Salim;
- Alcausin, Melanie;
- Haan, Eric;
- Hunter, Warwick;
- Kannu, Peter;
- Kerr, Bronwyn;
- McGillivray, George;
- McKinlay Gardner, R J;
- Patricelli, Maria G;
- Sillence, David;
- Thompson, Elizabeth;
- Zacharin, Margaret;
- Zankl, Andreas;
- Lamandé, Shireen R;
- Savarirayan, Ravi
Publication type:
journal article
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
By:
- de Munnik, Sonja A.;
- Otten, Barto J.;
- Schoots, Jeroen;
- Bicknell, Louise S.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- van Bever, Yolande;
- Bober, Michael B.;
- Borm, George F.;
- Clayton-Smith, Jill;
- Deal, Cheri L.;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M.;
- Hennekam, Raoul C.;
- Jansweijer, Maaike C.E.;
- Johnson, Diana;
- Kant, Sarina G.;
- Opitz, John M.
Publication type:
Article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
By:
- Bicknell, Louise S.;
- Bongers, Ernie M. H. F.;
- Leitch, Andrea;
- Brown, Stephen;
- Schoots, Jeroen;
- Harley, Margaret E.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- Bober, Michael;
- Brown, Paul A. J.;
- van Bokhoven, Hans;
- Dean, John;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- Hoefsloot, Lies H;
- Kau, Nikolaus;
- Knoers, Nine V. A. M.;
- MacKenzie, James;
- Opitz, John M.
Publication type:
Article
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 303, doi. 10.1038/ng.779
By:
- Simpson, Michael A.;
- Irving, Melita D.;
- Asilmaz, Esra;
- Gray, Mary J.;
- Dafou, Dimitra;
- Elmslie, Frances V.;
- Mansour, Sahar;
- Holder, Sue E.;
- Brain, Caroline E.;
- Burton, Barbara K.;
- Kim, Katherine H.;
- Pauli, Richard M.;
- Aftimos, Salim;
- Stewart, Helen;
- Kim, Chong Ae;
- Holder-Espinasse, Muriel;
- Robertson, Stephen P.;
- Drake, William M.;
- Trembath, Richard C.
Publication type:
Article
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Published in:
Nature Genetics, 2004, v. 36, n. 4, p. 405, doi. 10.1038/ng1319
By:
- King, Lily M.;
- Morgan, Timothy;
- Sebald, Eiman T.;
- Bertolotto, Cristina;
- Wachsmann-Hogiu, Sebastian;
- Acuna, Dora;
- Shapiro, Sandor S.;
- Takafuta, Toshiro;
- Aftimos, Salim;
- Chong Ae Kim;
- Firth, Helen;
- Steiner, Carlos E.;
- Cormier-Daire, Valerie;
- Superti-Furga, Andrea;
- Bonafe, Luisa;
- Graham Jr, John M.;
- Grix, Arthur;
- Bacino, Carlos A.;
- Allanson, Judith;
- Bialer, Martin G.
Publication type:
Article
Greater trochanteric stippling in trisomy 7p.
Published in:
2006
By:
- Wilde, Justin R.;
- Teele, Rita L.;
- Aftimos, Salim
Publication type:
journal article
Airway management during an EXIT procedure for a fetus with dysgnathia complex.
Published in:
Pediatric Anesthesia, 2004, v. 14, n. 9, p. 781, doi. 10.1111/j.1460-9592.2004.01284.x
By:
- Baker, Paul A.;
- Aftimos, Salim;
- Anderson, Brian J.
Publication type:
Article
A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities.
Published in:
Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/459602
By:
- Singh, Shalinder;
- Ashton, Fern;
- Marquis-Nicholson, Renate;
- Love, Jennifer M.;
- Lan, Chuan-Ching;
- Aftimos, Salim;
- George, Alice M.;
- Love, Donald R.
Publication type:
Article
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
By:
- de Munnik, Sonja A;
- Bicknell, Louise S;
- Aftimos, Salim;
- Al-Aama, Jumana Y;
- van Bever, Yolande;
- Bober, Michael B;
- Clayton-Smith, Jill;
- Edrees, Alaa Y;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M;
- Hennekam, Raoul C;
- Jansweijer, Maaike C E;
- Johnson, Diana;
- Kant, Sarina G;
- Opitz, John M;
- Ramadevi, A Radha;
- Reardon, Willie;
- Ross, Alison;
- Sarda, Pierre
Publication type:
Article
A missense mutation in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1176, doi. 10.1038/ejhg.2008.91
By:
- Bicknell, Louise S.;
- Pitt, James;
- Aftimos, Salim;
- Ramadas, Ram;
- Maw, Marion A.;
- Robertson, Stephen P.
Publication type:
Article
Congenital Aneurysm of the Muscular Interventricular Septum in Association with Cardiac Arrhythmias and a Chromosomal Abnormality.
Published in:
Pediatric Cardiology, 2007, v. 28, n. 1, p. 57, doi. 10.1007/s00246-004-0928-6
By:
- Wong, Sharon H.;
- Coleman, David M.;
- Aftimos, Salim
Publication type:
Article
Focal Dermal Hypoplasia Due to a Novel Mutation in a Boy with Klinefelter Syndrome.
Published in:
Pediatric Dermatology, 2013, v. 30, n. 4, p. 476, doi. 10.1111/pde.12031
By:
- Alkindi, Said;
- Battin, Malcolm;
- Aftimos, Salim;
- Purvis, Diana
Publication type:
Article
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Published in:
Annals of Neurology, 2007, v. 62, n. 4, p. 390, doi. 10.1002/ana.21213
By:
- Baker, Naomi L.;
- Mörgelin, Matthias;
- Pace, Rishika A.;
- Peat, Rachel A.;
- Adams, Naomi E.;
- Gardner, R. J. McKinlay;
- Rowland, Lewis P.;
- Miller, Geoffrey;
- De Jonghe, Peter;
- Ceulemans, Berten;
- Hannibal, Mark C.;
- Edwards, Matthew;
- Thompson, Elizabeth M.;
- Jacobson, Richard;
- Quinlivan, Ros C. M.;
- Aftimos, Salim;
- Kornberg, Andrew J.;
- North, Kathryn N.;
- Bateman, John F.;
- Lamandé, Shireen R.
Publication type:
Article
A non-mosaic ring chromosome 9 in a newborn baby referred for ambiguous genitalia: a case study.
Published in:
2011
By:
- Mazzaschi, Roberto L.P.;
- Love, Donald R.;
- George, Alice;
- Aftimos, Salim
Publication type:
Case Study
A non-mosaic ring chromosome 9 in a newborn baby referred for ambiguous genitalis: a case study.
Published in:
2011
By:
- Mazzaschi, Robert L.P.;
- Love, Donald R.;
- George, Alice;
- Aftimos, Salim
Publication type:
Journal Article
Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 589, doi. 10.1002/ajmg.a.33499
By:
- Kannu, Peter;
- Perry, David;
- Rees, Martin;
- O'Donnell, Clare;
- Aftimos, Salim
Publication type:
Article
Isolated Absence of the Moro Reflex in a Baby With CHARGE Syndrome Could Reflect Vestibular Abnormalities.
Published in:
Journal of Child Neurology, 2008, v. 23, n. 5, p. 561, doi. 10.1177/0883073807309779
By:
- Bloomfield, Frank H.;
- Dai, Shuan;
- Perry, David;
- Aftimos, Salim
Publication type:
Article
FGFR3 Mutations and Medial Temporal Lobe Dysgenesis.
Published in:
Journal of Child Neurology, 2007, v. 22, n. 2, p. 211, doi. 10.1177/0883073807300292
By:
- Kannu, Peter;
- Aftimos, Salim
Publication type:
Article
Prenatal diagnosis of trisomy 3 mosaicism in a fetus with severe IUGR.
Published in:
Prenatal Diagnosis, 2010, v. 30, n. 8, p. 803, doi. 10.1002/pd.2559
By:
- Sheath, Karen L.;
- Asquith, Philip M.;
- Zhang, Liangtao;
- Aftimos, Salim
Publication type:
Article
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum.
Published in:
Human Mutation, 2012, v. 33, n. 1, p. 64, doi. 10.1002/humu.21639
By:
- Whalen, Sandra;
- Héron, Delphine;
- Gaillon, Thierry;
- Moldovan, Oana;
- Rossi, Massimiliano;
- Devillard, Françoise;
- Giuliano, Fabienne;
- Soares, Gabriela;
- Mathieu-Dramard, Michelle;
- Afenjar, Alexandra;
- Charles, Perrine;
- Mignot, Cyril;
- Burglen, Lydie;
- Van Maldergem, Lionel;
- Piard, Juliette;
- Aftimos, Salim;
- Mancini, Grazia;
- Dias, Patricia;
- Philip, Nicole;
- Goldenberg, Alice
Publication type:
Article
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Published in:
Human Mutation, 2010, v. 31, n. 10, p. 1142, doi. 10.1002/humu.21328
By:
- Johnston, Jennifer J.;
- Sapp, Julie C.;
- Turner, Joyce T.;
- Amor, David;
- Aftimos, Salim;
- Aleck, Kyrieckos A.;
- Bocian, Maureen;
- Bodurtha, Joann N.;
- Cox, Gerald F.;
- Curry, Cynthia J.;
- Day, Ruth;
- Donnai, Dian;
- Field, Michael;
- Fujiwara, Ikuma;
- Gabbett, Michael;
- Gal, Moran;
- Graham, John M.;
- Hedera, Peter;
- Hennekam, Raoul C.M.;
- Hersh, Joseph H.
Publication type:
Article
A response to Suzuki et al. 'How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?'.
Published in:
Human Mutation, 2005, v. 25, n. 3, p. 316, doi. 10.1002/humu.20140
By:
- Antonarakis, Stylianos E.;
- Reymond, Alexandre;
- Menzel, Olivier;
- Bekkeheien, Reidunn CJ;
- Fukai, Naomi;
- Boye, Eileen;
- Kosztolanyi, Gyorgy;
- Aftimos, Salim;
- Deutsch, Samuel;
- Scott, Hamish S.;
- Olsen, Bjorn R.;
- Guipponi, Michel
Publication type:
Article
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
Published in:
Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/172408
By:
- Al-Murrani, Amel;
- Ashton, Fern;
- Aftimos, Salim;
- George, Alice M.;
- Love, Donald R.
Publication type:
Article
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
Published in:
Neurogenetics, 2013, v. 14, n. 2, p. 113, doi. 10.1007/s10048-013-0359-8
By:
- Tiffin, Heather;
- Jenkins, Zandra;
- Gray, Mary;
- Cameron-Christie, Sophia;
- Eaton, Jennifer;
- Aftimos, Salim;
- Markie, David;
- Robertson, Stephen
Publication type:
Article
Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin (Communicated by Peter Byers).
Published in:
Human Mutation, 2004, v. 23, n. 1, p. 77, doi. 10.1002/humu.10284
By:
- Olivier Menzel;
- Reidunn C.J. Bekkeheien;
- Alexandre Reymond;
- Naomi Fukai;
- Eileen Boye;
- Gyorgy Kosztolanyi;
- Salim Aftimos;
- Samuel Deutsch;
- Hamish S. Scott;
- Bjorn R. Olsen;
- Stylianos E. Antonarakis;
- Michel Guipponi
Publication type:
Article
A novel NR5 A1 variant in an infant with elevated testosterone from an Australasian cohort of 46, XY patients with disorders of sex development.
Published in:
Clinical Endocrinology, 2013, v. 78, n. 4, p. 545, doi. 10.1111/cen.12012
By:
- Wu, Joyce Y.;
- McGown, Ivan N.;
- Lin, Lin;
- Achermann, John C.;
- Harris, Mark;
- Cowley, David M.;
- Aftimos, Salim;
- Neville, Kristen A.;
- Choong, Catherine S.;
- Cotterill, Andrew M.
Publication type:
Article
A new syndrome of short stature, joint limitation and muscle hypertrophy.
Published in:
Clinical Genetics, 1983, v. 23, n. 6, p. 441, doi. 10.1111/j.1399-0004.1983.tb01979.x
By:
- Soljak, Michael A.;
- Aftimos, Salim;
- Gluckman, Peter D.
Publication type:
Article

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