Buscar

Mostrando ítems 1-10 de 118

Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Universidade Estadual Paulista (Unesp); CEUV; Faculdade de Medicina de São José do Rio Preto (FAMERP); Univ. of Colorado Hlth. Sci. Center (2002-06-01)

We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular ...

Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Universidade Estadual Paulista (Unesp); CEUV; Faculdade de Medicina de São José do Rio Preto (FAMERP); Univ. of Colorado Hlth. Sci. Center (2002-06-01)

Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Silva, Ana Elizabete; Vayego-Lourenço, Sheila Adami; Fett-Conte, Agnes Cristina; Goloni-Bertollo, Eny Maria; Varella-Garcia, Marileila (2014)

Insertional Translocation Of 15q25-q26 Into 11p13 And Duplication At 8p23.1 Characterized By High Resolution Arrays In A Boy With Congenital Malformations And Aniridia.

Simioni, Milena; Vieira, Társis Paiva; Sgardioli, Ilária Cristina; Freitas, Erika Lopes; Rosenberg, Carla; Maurer-Morelli, Cláudia Vianna; Lopes-Cendes, Iscia; Fett-Conte, Agnes Cristina; Gil-da-Silva-Lopes, Vera Lúcia (2012)

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.

dos Santos, Ana Paula; Vieira, Társis Paiva; Simioni, Milena; Monteiro, Fabíola Paoli; Gil-da-Silva-Lopes, Vera Lúcia (2013)

Allelic Imbalance Studies Of Chromosome 9 Suggest Major Differences In Chromosomal Instability Among Nonmelanoma Skin Carcinomas.

Gomes, Gabriela Pereira; Moraes, Aparecida Machado; Stoff, Hamilton Ometto; Ward, Laura Sterian (2004)

Investigation Of The 22q11.2 Candidate Region In Patients With Midline Facial Defects With Hypertelorism.

Simioni, M; Freitas, E Lopes; Vieira, T Paiva; Lopes-Cendes, I; Gil-da-Silva-Lopes, V Lúcia (2010)

Attention-deficit/hyperactivity disorder in a population isolate : linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11

Arcos Burgos, Oscar Mauricio; Castellanos, Francisco Xavier; Pineda Salazar, David Antonio; Lopera Restrepo, Francisco Javier; Palacio Ortiz, Juan David; Palacio Baena, Luis Guillermo; Rapoport, Judith; Berg, Kate; Bailey Wilson, Joan E.; Muenke, Maximilian (Cell PressGenética Regeneración y CáncerGrupo de Neurociencias de AntioquiaGrupo Neuropsicología y ConductaBaltimore, Estados Unidos, 2022)

A New Case Of Partial 14q31.3-qter Trisomy Due To Maternal Pericentric Inversion.

Sgardioli, Ilária Cristina; Simioni, Milena; Viguetti-Campos, Nilma Lúcia; Prota, Joana Rosa; Gil-da-Silva-Lopes, Vera Lúcia (2013)

A De Novo Cryptic 5p Deletion And 9p Duplication Detected By Subtelomeric Mlpa In A Boy With Cri Du Chat Syndrome.

Lincoln-de-Carvalho, Carolina R; Vicente, Fabíola M P; Vieira, Társis A P; de Mello, Maricilda P; Marques-de-Faria, Antonia P (2011)

1
2
3
4
. . .
12

Buscar

Filtros

Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Insertional Translocation Of 15q25-q26 Into 11p13 And Duplication At 8p23.1 Characterized By High Resolution Arrays In A Boy With Congenital Malformations And Aniridia.

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.

Allelic Imbalance Studies Of Chromosome 9 Suggest Major Differences In Chromosomal Instability Among Nonmelanoma Skin Carcinomas.

Investigation Of The 22q11.2 Candidate Region In Patients With Midline Facial Defects With Hypertelorism.

Attention-deficit/hyperactivity disorder in a population isolate : linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11

A New Case Of Partial 14q31.3-qter Trisomy Due To Maternal Pericentric Inversion.

A De Novo Cryptic 5p Deletion And 9p Duplication Detected By Subtelomeric Mlpa In A Boy With Cri Du Chat Syndrome.