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Mostrando ítems 11-20 de 44
Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome
(Elsevier, 2012)
OBJECTIVE:
Chromosome 22q11 microdeletion syndrome (del22q11) is the most frequent microdeletion syndrome in humans, with an estimated incidence of 1/4000. It is recognized as a common identifiable cause of cleft palate. ...
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
(Macmillan Publishers Limited, 2015)
22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, ...
Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome
(Elsevier, 2012)
OBJECTIVE:
Chromosome 22q11 microdeletion syndrome (del22q11) is the most frequent microdeletion syndrome in humans, with an estimated incidence of 1/4000. It is recognized as a common identifiable cause of cleft palate. ...
Clinical predictors of velocardiofacial syndrome as reported in patients' charts
(Universidade de São Paulo, Hospital de Reabilitação de Anomalias CraniofaciaisBauru, 2013-11-08)
Objective: The velocardiofacial syndrome (VCFS) involves a deletion of part of chromosome 22 and is associated to more than 180 clinical conditions. With a high variation in clinical findings, early identification of this ...
Atypical copy number abnormalities in 22q11.2 region: Report of three cases
(Elsevier Science BvAmsterdamHolanda, 2013)
Clinical Features In Patients With 22q11.2 Deletion Syndrome Ascertained By Palatal Abnormalities
(ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESSLAWRENCE, 2015)
Habilidades numéricas em crianças com microdeleções na região 22Q: estudo de grupo e análise de caso
(Universidade Federal de Minas GeraisUFMG, 2014-03-25)
Chromosome 22 was the first to be sequenced by the Human Genome Project and changes in its structure can generate numerous health conditions. The overall objective of the study is to investigate the numerical abilities in ...
Contribuição do fenótipo para o diagnóstico de síndromes de microdeleções por meio de metodologia adequada à realidade brasileira
(Universidade Federal de Minas GeraisUFMG, 2013-07-19)
Medical Genetics specializes in disorders with congenital malformations, developmental delay and cognitive impairment, which can be individually rare, but that affect a considerable number of individuals and families when ...