Works matching DE "VELOCARDIOFACIAL syndrome"

Results: 323

Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 247, doi. 10.1007/s10048-006-0054-0

By:

Long, Jeffrey;
LaPorte, Patricia;
Merscher, Sandra;
Funke, Birgit;
Saint-Jore, Bruno;
Puech, Anne;
Kucherlapati, Raju;
Morrow, Bernice;
Skoultchi, Arthur;
Wynshaw-Boris, Anthony

Publication type:

Article

Unfavourable results in skull base surgery.

Published in:

Indian Journal of Plastic Surgery, 2013, v. 46, n. 2, p. 239, doi. 10.4103/0970-0358.118599

By:

Jaju, Hemen

Publication type:

Article

Neuroembryology and functional anatomy of craniofacial clefts.

Published in:

Indian Journal of Plastic Surgery, 2009, v. 42, n. S1, p. S19, doi. 10.1055/s-0039-1699374

By:

Ewings, Ember L.;
Carstens, Michael H.

Publication type:

Article

Reconstruction in skull base surgery: Review of current concepts.

Published in:

Indian Journal of Plastic Surgery, 2007, v. 40, p. S52

By:

Trivedi, Nirav P.;
Kuriakose, Moni A.;
Iyer, Subramania

Publication type:

Article

Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome.

Published in:

2009

By:

Shefi, Shai;
Raviv, Gil;
Rienstein, Shlomit;
Barkai, Gad;
Aviram-Goldring, Ayala;
Levron, Jacob

Publication type:

Case Study

Structural and Functional Causes of Hypernasality in Velocardiofacial Syndrome.

Published in:

Folia Phoniatrica et Logopaedica, 2009, v. 61, n. 2, p. 93, doi. 10.1159/000209252

By:

Baylis, Adriane L.;
Watson, Peter J.;
Moller, Karlind T.

Publication type:

Article

Present-Day Importance of the Velocardiofacial Syndrome.

Published in:

Folia Phoniatrica et Logopaedica, 2007, v. 59, n. 3, p. 141, doi. 10.1159/000101772

By:

Karel Vrtička

Publication type:

Article

White matter microstructure in children with Velocardiofacial Syndrome: A Diffusion Tensor Imaging and Voxel Based Morphometry study.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 812, doi. 10.1111/j.1365-2788.2008.01119_3.x

By:

Sundram, F.;
Murphy, D. G.;
Murphy, K. C.

Publication type:

Article

Intellectual abilities in a large sample of children with Velo–Cardio–Facial Syndrome: an update.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 9, p. 666, doi. 10.1111/j.1365-2788.2007.00955.x

By:

De Smedt, B.;
Devriendt, K.;
Fryns, J.‐P.;
Vogels, A.;
Gewillig, M.;
Swillen, A.

Publication type:

Article

Temperament in velocardiofacial syndrome.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 3, p. 218, doi. 10.1111/j.1365-2788.2006.00859.x

By:

Antshel, K. M.;
Stallone, K.;
AbdulSabur, N.;
Shprintzen, R.;
Roizen, N.;
Higgins, A. M.;
Kates, W. R.

Publication type:

Article

Oral Presentations.

Published in:: Journal of Intellectual Disability Research, 2006, v. 50, n. 11, p. 783, doi. 10.1111/j.1365-2788.2006.00909.x
Publication type:: Article

Velo–Cardio–Facial Syndrome: A Model for Understanding Microdeletion Disorders.

Published in:

2006

By:

Hemmings, Colin

Publication type:

Book Review

A multiple case study of verbal short-term memory in velo-cardio-facial syndrome.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 6, p. 457, doi. 10.1111/j.1365-2788.2006.00791.x

By:

Majerus, S.;
Glaser, B.;
Van der Linden, M.;
Eliez, S.

Publication type:

Article

SPEECH AND LANGUAGE ABILITIES OF CHILDREN WITH THE FAMILIAL FORM OF 22Q11.2 DELETION SYNDROME.

Published in:

Genetika (0534-0012), 2016, v. 48, n. 1, p. 57, doi. 10.2298/GENSR1601057R

By:

RAKONJAC, Marijana;
CUTURILO, Goran;
STEVANOVIC, Milena;
JOVANOVIC, Ida;
JELICIC DOBRIJEVIC, Ljiljana;
MIJOVIC, Marija;
DRAKULIC, Danijela

Publication type:

Article

Ocular findings in children with a microdeletion in chromosome 22q11.2.

Published in:

2008

By:

Casteels, Ingele;
Casaer, Patricia;
Gewillig, Marc;
Swillen, Ann;
Devriendt, Koenraad

Publication type:

journal article

22q11 deletion syndrome: current perspective.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 123, doi. 10.2147/TACG.S82105

By:

Hacıhamdioğlu, Bülent;
Hacıhamdioğlu, Duygu;
Delil, Kenan

Publication type:

Article

Do toxic metals and trace elements have a role in the pathogenesis of conotruncal heart malformations?

Published in:

2017

By:

Kundak, Afsin A.;
Pektas, Ayhan;
Zenciroglu, Aysegul;
Ozdemir, Semra;
Barutcu, Umit B.;
Orun, Utku A.;
Okumus, Nurullah

Publication type:

journal article

Echocardiographic evaluation of coronary arteries in congenital heart disease.

Published in:

2015

By:

Freire, Grace;
Miller, Michelle S.

Publication type:

journal article

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.5

By:

Schwinger, Eberhard;
Devriendt, Koen;
Rauch, Anita;
Philip, Nicole

Publication type:

Article

Treacher Collins syndrome: etiology, pathogenesis and prevention.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 275, doi. 10.1038/ejhg.2008.221

By:

Trainor, Paul A.;
Dixon, Jill;
Dixon, Michael J.

Publication type:

Article

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 884, doi. 10.1038/sj.ejhg.5201633

By:

Vasudevan, Pradeep C.;
Twigg, Stephen R. F.;
Mulliken, John B.;
Cook, Jackie A.;
Quarrell, Oliver W. J.;
Wilkie, Andrew O. M.

Publication type:

Article

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1239, doi. 10.1038/sj.ejhg.5201486

By:

Ghassibé, Michella;
Bayet, Benedicte;
Revencu, Nicole;
Verellen-Dumoulin, Christine;
Gillerot, Yves;
Vanwijck, Romain;
Vikkula, Miikka

Publication type:

Article

Velocardiofacial Sendroma Eşlik Eden Şizofreni Olgusu.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2009, v. 46, n. 1, p. 27

By:

Şengül, Cem;
Efe, Muharrem;
Tepeli, Emre;
Çetin, Ozan;
Düzcan, Füsun;
Herken, Hasan

Publication type:

Article

Multiple root resorption as a presenting sign of Paget's disease of bone.

Published in:

Oral Surgery (1752-2471), 2008, v. 1, n. 1, p. 53, doi. 10.1111/j.1752-248X.2007.00011.x

By:

Monteiro, M.;
Rout, J.

Publication type:

Article

Altered white matter microstructure is associated with social cognition and psychotic symptoms in 22q11.2 microdeletion syndrome.

Published in:

Frontiers in Behavioral Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnbeh.2014.00393

By:

Jalbrzikowski, Maria;
Villalon-Reina, Julio E.;
Karlsgodt, Katherine H.;
Senturk, Damla;
Chow, Carolyn;
Thompson, Paul M.;
Bearden, Carrie E.

Publication type:

Article

Evaluation and management of nonsyndromic craniosynostosis.

Published in:

Acta Paediatrica, 2011, v. 100, n. 9, p. 1185, doi. 10.1111/j.1651-2227.2011.02299.x

By:

Ursitti, F.;
Fadda, T.;
Papetti, L.;
Pagnoni, M.;
Nicita, F.;
Iannetti, G.;
Spalice, A.

Publication type:

Article

Pancytopenia in a 4-year-old boy (Discussion and Diagnosis).

Published in:

Acta Paediatrica, 2009, v. 98, n. 5, p. 912, doi. 10.1111/j.1651-2227.2009.00921.x

By:

Lehmberg, Kai;
Rohr, Jan;
Schneppenheim, Reinhard;
Sommerfeld, Kathrin;
Janka, Gritta

Publication type:

Article

Freeman-Burian syndrome.

Published in:

2019

By:

Poling, Mikaela I.;
Dufresne, Craig R.;
Chamberlain, Robert L.

Publication type:

journal article

Cognition, psychosocial adjustment and coping in familial cases of velocardiofacial syndrome.

Published in:

Journal of Neural Transmission, 2007, v. 114, n. 11, p. 1495, doi. 10.1007/s00702-007-0766-9

By:

Gothelf, D.;
Aviram-Goldring, A.;
Burg, M.;
Steinberg, T.;
Mahajnah, M.;
Frisch, A.;
Fennig, S.;
Zalsman, G.;
Weizman, A.

Publication type:

Article

Saving face: rescuing a craniofacial birth defect.

Published in:

Nature Medicine, 2008, v. 14, n. 2, p. 115, doi. 10.1038/nm0208-115

By:

McKeown, Sonja Jane;
Bronner-Fraser, Marianne

Publication type:

Article

Mutations in the TGF-? repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Published in:

Nature Genetics, 2012, v. 44, n. 11, p. 1249, doi. 10.1038/ng.2421

By:

Doyle, Alexander J;
Doyle, Jefferson J;
Bessling, Seneca L;
Maragh, Samantha;
Lindsay, Mark E;
Schepers, Dorien;
Gillis, Elisabeth;
Mortier, Geert;
Homfray, Tessa;
Sauls, Kimberly;
Norris, Russell A;
Huso, Nicholas D;
Leahy, Dan;
Mohr, David W;
Caulfield, Mark J;
Scott, Alan F;
Destrée, Anne;
Hennekam, Raoul C;
Arn, Pamela H;
Curry, Cynthia J

Publication type:

Article

Chewing side, bite force symmetry, and occlusal contact area of subjects with different facial vertical patterns.

Published in:

Brazilian Oral Research, 2011, v. 25, n. 5, p. 446, doi. 10.1590/S1806-83242011005000014

By:

Farias Gomes, Simone Guimarães;
Custodio, William;
Faot, Fernanda;
Del Bel Cury, Altair Antoninha;
Rodrigues Garcia, Renata Cunha Matheus

Publication type:

Article

A mother and son with Noonan syndrome resulting from a PTPN1 1 mutation: first report of molecularly proven cases from Turkey.

Published in:

Turkish Journal of Pediatrics, 2010, v. 52, n. 3, p. 321

By:

Demir, Korcan;
Yntema, Helger G.;
Altıncık, Ayça;
Böber, Ece

Publication type:

Article

Craniofacial Morphometry for Craniofacial Implant.

Published in:

International Journal of Morphology, 2012, v. 30, n. 3, p. 1166, doi. 10.4067/S0717-95022012000300063

By:

Olate, Sergio;
de Moraes, Paulo Hemerson;
Caria, Paulo Henrique Ferreira;
de Miranda Chaves Netto, Henrique Duque;
de Albergaria Barbosa, José Ricardo

Publication type:

Article

Thoracic Vagal Ganglion and Referred Craniofacial Pain: a Case Report and Review.

Published in:

International Journal of Morphology, 2007, v. 25, n. 1, p. 33

By:

Aristeguieta, Luis Miguel Ramírez;
Ballesteros, Luis Ernesto;
Forero, Pedro Luis;
Conde, Carlos

Publication type:

Article

Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty.

Published in:

Fetal & Pediatric Pathology, 2017, v. 36, n. 1, p. 33, doi. 10.1080/15513815.2016.1231248

By:

Burke, Shanna;
Maramaldi, Peter

Publication type:

Article

Correlation analysis of craniomandibular index and gothic arch tracing in patients with craniomandibular disorders.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2011, v. 68, n. 7, p. 594, doi. 10.2298/VSP1107594T

By:

Todić, Jelena;
Lazić, Dragoslav;
Radosavljević, Radiovoje

Publication type:

Article

Rendgenkraniometrijska evaluacija kraniofacijalnih dimenzija kod osoba sa simptomima temporomandibularnih disfunkcija.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2006, v. 63, n. 9, p. 793

By:

Dodić, Slobodan;
Vukadinović, Miroslav;
Sinobad, Vladimir

Publication type:

Article

Conference Calendar.

Published in:: 2006
Publication type:: Calendar

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.

Published in:

Cytogenetic & Genome Research, 2015, v. 146, n. 2, p. 89, doi. 10.1159/000438708

By:

Burnside, Rachel D.

Publication type:

Article

Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.

Published in:

Cytogenetic & Genome Research, 2009, v. 124, n. 2, p. 113, doi. 10.1159/000207515

By:

Bittel, D. C.;
Yu, S.;
Newkirk, H.;
Kibiryeva, N.;
Holt III, A.;
Butler, M. G.;
Cooley, L. D.

Publication type:

Article

Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.

Published in:

Molecular & Cellular Biochemistry, 2007, v. 303, n. 1/2, p. 9, doi. 10.1007/s11010-007-9450-5

By:

Paula Sandrin-Garcia;
Dagma Abramides;
Lúcia Martelli;
Ester Ramos;
Antônio Richieri-Costa

Publication type:

Article

Phenotypic Expression in the First Case of Complete Trisomy 12: Combination of Prenatal Ultrasound and Necropsic Examination.

Published in:

Fetal Diagnosis & Therapy, 2009, v. 25, n. 2, p. 234, doi. 10.1159/000222666

By:

Machado, Ana Paula;
Ramalho, Carla;
Loureiro, Teresa;
Cunha, Manuela;
Dória, Sofia;
Carvalho, Filipa;
Oliveira, João Paulo;
Brandão, Otília;
Matias, Alexandra

Publication type:

Article

Increased Nuchal Translucency Thickness: A Potential Indicator for Ritscher-Schinzel Syndrome.

Published in:

Fetal Diagnosis & Therapy, 2008, v. 24, n. 4, p. 395, doi. 10.1159/000165697

By:

Rusnak, Alison J.;
Hadfield, Marie I.;
Chudley, Albert E.;
Marles, Sandra L.;
Reid, Gregory J.;
Chodirker, Bernard N.

Publication type:

Article

Prenatal Diagnosis, Phenotypicand Obstetric Charact eristics of Holoprosencephaly.

Published in:

Fetal Diagnosis & Therapy, 2005, v. 20, n. 3, p. 161, doi. 10.1159/000083897

By:

Joó, Gábor J.;
Beke, Artúr;
Papp, Csaba;
Tóth-Pál, Ernő;
Szigeti, Zsanett;
Bán, Zoltán;
Papp, Zoltán

Publication type:

Article

Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: a novel approach.

Published in:

Acta Neuropsychiatrica, 2007, v. 19, n. 4, p. 244, doi. 10.1111/j.1601-5215.2007.00202.x

By:

Verhoeven, Willem;
Egger, Jos;
Tuinier, Siegfried

Publication type:

Article

Book review.

Published in:

2006

By:

Gordon, A. G.

Publication type:

Book Review

Oral manifestations of a rare variant of Marfan syndrome.

Published in:

Clinical Case Reports, 2017, v. 5, n. 9, p. 1429, doi. 10.1002/ccr3.1058

By:

Sinha, Abhishek;
Kaur, Sandeep;
Raheel, Syed Ahmed;
Kaur, Kirandeep;
Alshehri, Mohammed;
Kujan, Omar

Publication type:

Article

Risk of malignancy in 22q11.2 deletion syndrome.

Published in:

Clinical Case Reports, 2017, v. 5, n. 4, p. 486, doi. 10.1002/ccr3.880

By:

Stevens, Toer;
Werff ten Bosch, Jutte;
De Rademaeker, Marjan;
Van Den Bogaert, Ann;
Akker, Machiel

Publication type:

Article

Ethical issues in pediatric face transplantation.

Published in:

Pediatric Transplantation, 2017, v. 21, n. 7, p. n/a, doi. 10.1111/petr.13032

By:

Benghiac, Ana‐Gabriela;
Garrett, Jeremy R.;
Carter, Brian S.

Publication type:

Article