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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
(Blackwell MunksgaardFrederiksberg CDinamarca, 2005)
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
(Blackwell Munksgaard, 2005-06-01)
Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the genetic basis of metopic synostosis and in an attempt to restrict ...
Trigonocephaly-associated hypotelorism in an infant with trisomy 9q(p13 -> qter).
(UNIV CHICAGO PRESS, 2002)
Trigonocephaly-associated hypotelorism in an infant with trisomy 9q(p13 -> qter).
(UNIV CHICAGO PRESS, 2002)
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis
(WILEY-BLACKWELLMALDEN, 2012)
Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental ...
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients
(Alliance Communications Group Division Allen PressLawrenceEUA, 2006)
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion
(Wiley-Blackwell, 2006-08-01)
BACKGROUND: Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. CASE: We ...
Estudo genético-clínico das craniostenoses isoladas e associadas
(Universidade Federal de São Paulo (UNIFESP), 1997)
Foram avaliados 24 pacientes (18 probandos), com suspeita diagnostica de craniostenose isolada ou associada, na Unidade de Dismorfologia e Genetica Clinica da Disciplina de Genetica do Departamento de Morfologia (UNIFESP-EPM), ...