Works matching DE "VELOCARDIOFACIAL syndrome"

Results: 321

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

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases.

Published in:

Pediatric Cardiology, 2013, v. 34, n. 7, p. 1687, doi. 10.1007/s00246-013-0694-4

By:

Peyvandi, Shabnam;
Lupo, Philip;
Garbarini, Jennifer;
Woyciechowski, Stacy;
Edman, Sharon;
Emanuel, Beverly;
Mitchell, Laura;
Goldmuntz, Elizabeth

Publication type:

Article

Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT<sup>158</sup> Allele.

Published in:

Neuropsychopharmacology, 2009, v. 34, n. 3, p. 739, doi. 10.1038/npp.2008.132

By:

Vorstman, Jacob A. S.;
Turetsky, Bruce I.;
Sijmens-Morcus, Monique E. J.;
de Sain, Monique G.;
Dorland, Bert;
Sprong, Mirjam;
Rappaport, Eric F.;
Beemer, Frits A.;
Emanuel, Beverly S.;
Kahn, René S.;
van Engeland, Herman;
Kemner, Chantal

Publication type:

Article

Disrupted Dopaminergic Neurotransmission in 22q11 Deletion Syndrome.

Published in:

Neuropsychopharmacology, 2008, v. 33, n. 7, p. 1252, doi. 10.1038/sj.npp.1301508

By:

Boot, Erik;
Booij, Jan;
Zinkstok, Janneke;
Abeling, Nico;
de Haan, Lieuwe;
Baas, Frank;
Linszen, Don;
van Amelsvoort, Thérèse

Publication type:

Article

A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes.

Published in:

European Psychiatry, 2014, v. 29, n. 4, p. 203, doi. 10.1016/j.eurpsy.2013.07.001

By:

Zarchi, O.;
Diamond, A.;
Weinberger, R.;
Abbott, D.;
Carmel, M.;
Frisch, A.;
Michaelovsky, E.;
Gruber, R.;
Green, T.;
Weizman, A.;
Gothelf, D.

Publication type:

Article

W01-01 - From karyotype to targeted microarray

Published in:

2012

By:

Feenstra, I.;
Van Bon, B.W.;
Koolen, D.A.;
Pfundt, R.;
Kleefstra, T.;
De Leeuw, N.

Publication type:

Abstract

PW01-165 - Identification of a de novo 22q11.2 distal deletion in an adult female referred for an anxiety disorder

Published in:

2010

By:

Verhoeven, W.;
De Leeuw, N.;
Egger, J.;
Brunner, H.

Publication type:

Abstract

P03-222 A weak association of the CLDN5 locus with schizophrenia in Chinese case-control samples

Published in:

2009

By:

Wu, N.;
Zhang, X.;
Ye, L.;
Xu, Q.;
Jin, S.;
Wang, Z.;
Liu, S.;
Ju, G.;
Shen, Y.;
Wei, J.

Publication type:

Abstract

P02-13 Meta-analysis of magnetic resonance imaging studies in velocardiofacial syndrome (VCFS)

Published in:

2009

By:

Tan, G.;
Arnone, D.;
McIntosh, A.M.;
Ebmeier, K.P.

Publication type:

Abstract

Grasping the Opportunity.

Published in:

International Journal of Oral & Maxillofacial Implants, 1995, v. 10, n. 3, p. 1

By:

Brown, Julie Jordan;
Eriksson, Elof;
LaVelle, William E.;
Niparko, John K.;
Tolman, Dan E.

Publication type:

Article

Temporomandibular Disorders after Whiplash Injury: A Controlled, Prospective Study.

Published in:

Journal of Orofacial Pain, 2002, v. 16, n. 2, p. 118

By:

Kasch, Helge;
Hjorth, Tine;
Svensson, Peter;
Nyhuus, Lone;
Jensen, Troels S.

Publication type:

Article

Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis.

Published in:

2014

By:

Mesihoviæ Dinareviæ, Senka;
Vukas, Emina

Publication type:

Case Study

Correlation between otitis media and craniofacial morphology in adults.

Published in:

ENT: Ear, Nose & Throat Journal, 2007, v. 86, n. 12, p. 738

By:

Sampaio, Perboyre Lacerda;
Bento, Ricardo Ferreira;
Di Francesco, Renata C.

Publication type:

Article

Retropharyngeal carotid artery.

Published in:

ENT: Ear, Nose & Throat Journal, 2007, v. 86, n. 11, p. 665, doi. 10.1177/014556130708601114

By:

Avitia, Sofia;
Hamilton, Jason;
Osborne, Ryan F.

Publication type:

Article

Mandibular distraction osteogenesis with a small semiburied device in neonates: Report of 2 cases.

Published in:

ENT: Ear, Nose & Throat Journal, 2006, v. 85, n. 2, p. 102, doi. 10.1177/014556130608500214

By:

Brevi, Bruno;
Laganà, Francesco;
Piazza, Fabio;
Sesenna, Enrico

Publication type:

Article

Mid Line Craniofacial Defects and Morning Glory Disc Anomaly with Clinical Anophthalmos—A Distinct Clinical Entity.

Published in:

Orbit, 2010, v. 29, n. 1, p. 57, doi. 10.3109/01676830903294669

By:

Magdalene, D.;
Kalita, L.;
Deka, A.;
Deka, C.

Publication type:

Article

Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2.

Published in:

Ophthalmic Genetics, 2010, v. 31, n. 1, p. 24, doi. 10.3109/13816810903426249

By:

Gottlieb, Chloe;
Li, Zhuqing;
Uzel, Gulbu;
Nussenblatt, Robert B;
Sen, H Nida

Publication type:

Article

"3D Imaging Using Laser Scanner In Oral And Craniofacial Region - An Overview".

Published in:

Indian Journal of Dental Sciences, 2012, v. 4, n. 2, p. 93

By:

Veeraraghavan, Gajendra

Publication type:

Article

Orthognathic surgery in patients with craniofacial syndrome. I. A 5-year overview of combined orthodontic and surgical correction.

Published in:

Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd), 2010, v. 44, n. 6, p. 282, doi. 10.3109/2000656X.2010.516594

By:

Kahnberg, Karl-Erik;
Hagberg, Catharina

Publication type:

Article

Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome.

Published in:

Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09372-3

By:

Moore, Tyler M.;
Salzer, Deby;
Bearden, Carrie E.;
Calkins, Monica E.;
Kates, Wendy R.;
Kushan, Leila;
Gallagher, Robert Sean;
Frumer, Dafna Sofrin;
Weinberger, Ronnie;
McDonald-McGinn, Donna M.;
Gur, Raquel E.;
Gothelf, Doron

Publication type:

Article

Chromosome 22 microdeletion in children with syndromic congenital heart disease by fluorescent in situ hybridization (FISH).

Published in:

Egyptian Journal of Medical Human Genetics, 2012, v. 13, n. 3, p. 313, doi. 10.1016/j.ejmhg.2012.04.006

By:

El-Ella, Soheir S. A.;
El Gendy, Fady;
Tawfik, Maha A. M.;
El Sobky, Ezzat;
Khattab, Ahmed;
El-mekkawy, Mohamed

Publication type:

Article

Craniofacial proportions and anthropometric measurements among growth hormone deficient Egyptian children.

Published in:

Egyptian Journal of Medical Human Genetics, 2008, v. 9, n. 2, p. 161

By:

Rashad, Mona;
Amr, Nermine H.;
Badwy, Mervat E.;
Elsedfy, Heba H.

Publication type:

Article

Case of psychotic patient with suspected Shprintzen- Goldberg syndrome.

Published in:

Psychiatry & Clinical Neurosciences, 2014, v. 68, n. 5, p. 388, doi. 10.1111/pcn.12141

By:

Jeong, Hee Jeong;
Lee, Jung Jin;
Lee, Byung Dae;
Park, Je Min;
Lee, Young Min;
Moon, Eunsoo

Publication type:

Article

Velocardiofacial syndrome presenting as chronic mania.

Published in:

Psychiatry & Clinical Neurosciences, 2010, v. 64, n. 6, p. 666, doi. 10.1111/j.1440-1819.2010.02144.x

By:

Praharaj, Samir Kumar;
Sarkar, Sukanto;
Sinha, Vinod Kumar

Publication type:

Article

Unilateral complete articulated ossification and aberrant thickening of the stylohyoid chain.

Published in:

2017

By:

Jie Lei;
U. Yap, Adrian;
Yi Zhang;
Kai-Yuan Fu;
Lei, Jie;
Yap, Adrian U;
Zhang, Yi;
Fu, Kai-Yuan

Publication type:

journal article

Comparison between the external gonial angle in panoramic radiographs and lateral cephalograms of adult patients with Class I malocclusion.

Published in:

Journal of Oral Science, 2009, v. 51, n. 3, p. 425, doi. 10.2334/josnusd.51.425

By:

Shahabi, Mostafa;
Ramazanzadeh, Barat-Ali;
Mokhber, Nima

Publication type:

Article

Dysgerminoma of the ovary in a patient with triple-X syndrome (47, XXX) and Marfanoid habitus features.

Published in:

Ginekologia Polska, 2021, v. 92, n. 6, p. 466, doi. 10.5603/GP.2021.0106

By:

Moskwinska, Karolina;
Sniadecki, Marcin;
Wydra, Dariusz

Publication type:

Article

An increased Incidence of Exposure to Fentanyl - Contaminated Heroin Among Illicit Opioid Users and the Craniofacial Manifestations of Heroin Use.

Published in:

Oklahoma Dental Association Journal, 2018, v. 109, n. 5, p. 32

By:

Maloney, William J.

Publication type:

Article

A case of Marshall-Smith or Weaver syndrome.

Published in:

Journal of the Royal Society of Medicine, 1989, v. 82, n. 11, p. 682, doi. 10.1177/014107688908201117

By:

Smyth, R. L.;
Gould, J. D. M.;
Baraitser, M.

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

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.

Published in:

2009

By:

Randall, Victoria;
McCue, Karen;
Roberts, Catherine;
Kyriakopoulou, Vanessa;
Beddow, Sarah;
Barrett, Angela N.;
Vitelli, Francesca;
Prescott, Katrina;
Shaw-Smith, Charles;
Devriendt, Koen;
Bosman, Erika;
Steffes, Georg;
Steel, Karen P.;
Simrick, Subreena;
Basson, M. Albert;
Illingworth, Elizabeth;
Scambler, Peter J.

Publication type:

journal article

Síndrome de Treacher Collins. Reporte de un caso.

Published in:: Revista Mexicana de Pediatria, 2010, v. 77, n. 4, p. 159
Publication type:: Article

Neuropathology of 22q11 Deletion Syndrome in an Infant.

Published in:

Pediatric & Developmental Pathology, 2014, v. 17, n. 5, p. 386, doi. 10.2350/13-11-1399-CR.1

By:

WU, PETER;
TEOT, LISA;
MURDOCH, GEOFFREY;
MONAGHAN-NICHOLS, A. PAULA;
MCFADDEN, KATHRYN

Publication type:

Article

Cardiac Registry Screening for DiGeorge Critical Region Deletion Using Loss of Heterozygosity Analysis.

Published in:

Pediatric & Developmental Pathology, 2006, v. 9, n. 4, p. 266, doi. 10.2350/06-02-0041.1

By:

Katzman, Philip J.;
Smoot, Leslie B.;
Cox, Gerald F.

Publication type:

Article

Differential Detection of Deletion 22q11.2 Syndrome by Specialty and Indication.

Published in:

Pediatric & Developmental Pathology, 2005, v. 8, n. 5, p. 557, doi. 10.1007/s10024-005-0056-1

By:

Katzman, P. J.;
Wang, B.;
Sawhney, M.;
Wang, N.

Publication type:

Article

Topical review: Temporomandibular disorders in an integral otic symptom model.

Published in:

International Journal of Audiology, 2008, v. 47, n. 4, p. 215, doi. 10.1080/14992020701843137

By:

Ramirez, L.M.;
Ballesteros, L.E.;
Sandoval, G.P.

Publication type:

Article

Prenatal ultrasound diagnosis of isolated conotruncal anomalies.

Published in:

2000

By:

Shukunami, K.;
Uchida, T.;
Takada, K.;
Kotsuji, F.

Publication type:

Case Study

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

Cervical Aortic Arch: Echocardiographic and Three-Dimensional Computed Tomography View.

Published in:

2010

By:

Caputo, Salvatore;
Villanacci, Raffaele;
Ciampi, Quirino;
Villari, Bruno

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

Genetic Aspects of the Obstructive Sleep Apnoea-Hypopnoea Syndrome.

Published in:

Somnologie, 2006, v. 10, n. 3, p. 101, doi. 10.1111/j.1439-054X.2006.00092.x

By:

Riha, Renata L.

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

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

Published in:

British Journal of Dermatology, 2011, v. 164, n. 3, p. 521, doi. 10.1111/j.1365-2133.2010.10122.x

By:

Siegel, D.H.;
McKenzie, J.;
Frieden, I.J.;
Rauen, K.A.

Publication type:

Article

The proteins ARVCF and p0071 in renal cell carcinomas and their potential use in the diagnosis of renal tumours.

Published in:

2009

By:

Walter, Britta;
Berger, Irina;
Hofmann, Ilse

Publication type:

Letter

CT Imaging of Craniofacial Fibrous Dysplasia.

Published in:

Case Reports in Dentistry, 2015, v. 2015, p. 1, doi. 10.1155/2015/134123

By:

Unal Erzurumlu, Zerrin;
Celenk, Peruze;
Bulut, Emel;
Barıs, Yakup Sancar

Publication type:

Article

A Novel Technique of Impression Procedure in a Hemimaxillectomy Patient with Microstomia.

Published in:

Case Reports in Dentistry, 2012, p. 1, doi. 10.1155/2012/272161

By:

Deogade, Suryakant C.

Publication type:

Article

DERMATITIS HERPETIFORMIS BODIES AND AUTOANTIBODIES TO NONCUTANEOUS ORGANS AND MITOCHONDRIA IN DERMATITIS HERPETIFORMIS.

Published in:

Our Dermatology Online / Nasza Dermatologia Online, 2012, v. 3, n. 4, p. 283, doi. 10.7241/ourd.20124.63

By:

Abreu Velez, Ana Maria;
Hong Yi;
Girard, Julia Griffin;
Zhe Jiao;
Ramírez, Mauricio Duque;
Arias, Luis F.;
Smoller, Bruce B.;
Dudley Jr., Samuel C.;
Howard, Michael S.

Publication type:

Article