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Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma

del Rey, Graciela Monica; Venara, Marcela Cristina; Papendieck, P.; Gruñeiro, L.; Tangari, A.; Boywitt, A.; Casali, B.; Laudicina, A. (Biological Systems, 2015-02)

Deletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomeric distal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genes ...

De Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case.

Simioni, Milena; Steiner, Carlos Eduardo; Gil-da-Silva-Lopes, Vera Lúcia (2015)

Maternally Inherited Partial Monosomy 9p (pter -> p24.1) and Partial Trisomy 20p (pter -> p12.1) Characterized by Microarray Comparative Genomic Hybridization

Freitas, EL; Gribble, SM; Simioni, M; Vieira, TP; Silva-Grecco, RL; Balarin, MAS; Prigmore, E; Krepischi-Santos, AC; Rosenberg, C; Szuhai, K; van Haeringen, A; Carter, NP; Gil-da-Silva-Lopes, VL (Wiley-blackwellMaldenEUA, 2011)

Partial Monosomy 21 (q11.2→q21.3) Combined With 3p25.3→pter Monosomy Due To An Unbalanced Translocation In A Patient Presenting Dysmorphic Features And Developmental Delay

Santos A.P.D.; Vieira T.P.; Simioni M.; Monteiro F.P.; Gil-da-Silva-Lopes V.L. (, 2013)

De Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case

Simioni; Milena; Steiner; Carlos Eduardo; Gil-da-Silva-Lopes; Vera Lucia (ELSEVIER SCIENCE BVAMSTERDAM, 2015)

Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21

Camilo, Maria Jesus E.; Mulatinho, Milene V.; Ramos, Hilda; Almeida, José Carlos C.; Llerena Junior, Juan Clinton; Seuánez, Héctor N.; Vargas, Fernando R.; Cardoso, Leila C. A.; Moraes, Lúcia (Elsevier, 2013)

Cytogenetic alterations in chagasic achalasia compared to esophageal carcinoma

Manoel-Caetano, F. D.; Borim, A. A.; Caetano, A.; Cury, P. M.; Silva, A. E. (Elsevier B.V., 2014)

Maternally Inherited Partial Monosomy 9p (pter→p24.1) And Partial Trisomy 20p (pter→p12.1) Characterized By Microarray Comparative Genomic Hybridization

Freitas E.L.; Gribble S.M.; Simioni M.; Vieira T.P.; Silva-Grecco R.L.; Balarin M.A.S.; Prigmore E.; Krepischi-Santos A.C.; Rosenberg C.; Szuhai K.; van Haeringen A.; Carter N.P.; Gil-da-Silva-Lopes V.L. (, 2011)

Duplication 9p and their implication to phenotype

Guilherme, Roberta Santos [UNIFESP]; Meloni, Vera Ayres [UNIFESP]; Perez, Ana Beatriz Alvarez [UNIFESP]; Pilla, Ana Luiza [UNIFESP]; Ramos, Marco Antonio Paula de [UNIFESP]; Dantas, Anelisa Gollo [UNIFESP]; Takero, Sylvia Satomi [UNIFESP]; Kulikowski, Leslie Domenici; Melaragno, Maria Isabel [UNIFESP] (Biomed Central Ltd, 2014-12-20)

Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete ...

Genome Rearrangements In Patients With Blepharophimosis, Mental Retardation And Hypothyroidism, So-called Young-simpson Syndrome

Brancati F.; Bernardini L.; Cavalcanti D.P.; Romano C.; Novelli A.; Dallapiccola B. (, 2009)