Lista de obras - Ramirez-Dueñas ML - Dominio Público Uruguay

1,2:3,4-Diepoxybutane Induces Multipolar Mitosis in Cultured Human Lymphocytes

artículo científico publicado en 2016

A 9p13-->p24 duplication coupled with a whole 22q translocation onto 9p24

scientific article published on 01 January 2007

Alphoidless centromere of a familial unstable inverted Y chromosome

scientific article published on 01 January 1996

Are the faciothoracoskeletal syndrome and the Guadalajara camptodactyly syndrome type I distinct entities?

scientific article published on 01 September 1995

Assignment of KPNA4 and KPNB1 encoding karyopherin alpha 4 and beta 1 to human chromosome bands 11q22 and 17q21 respectively, by in situ hybridization

scientific article published on 01 January 2000

Assignment of karyopherin alpha 1 (KPNA1) to human chromosome band 3q21 by in situ hybridization

scientific article published on 01 January 2000

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

artículo científico publicado en 2000

Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome

artículo científico publicado en 1980

Benign familial macrocephaly in a mother-son pair

scientific article published on 01 January 2010

Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6.

artículo científico publicado en 2016

Caudal duplication: case report

artículo científico publicado en 2012

Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome)

artículo científico publicado en 2015

Family history of handedness and language problems in Mexican reading-disabled children

artículo científico publicado en 1996

Floating-Harbor syndrome. A neuropsychological approach

scientific article published on 01 January 1996

Gestational diabetes mellitus and congenital malformations

artículo científico publicado en 2001

Guadalajara camptodactyly syndrome type I. A corroborative family.

artículo científico publicado en 1993

Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome.

artículo científico publicado en 2002

Hardy-Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases

artículo científico publicado en 2015

Hb Chiapas alpha 2 114 Pro replaced by Arg beta 2: identification by high pressure liquid chromatography

scientific article published on 01 January 1981

Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

artículo científico publicado en 1993

Lujan syndrome in a Mexican boy.

artículo científico publicado en 1992

Methylenetetrahydrofolate reductase gene 677CT polymorphism and isolated congenital heart disease in a Mexican population.

artículo científico publicado en 2011

Neuropsychological Impairment in School-Aged Children Born to Mothers With Gestational Diabetes.

artículo científico publicado en 2015

Opposite imbalances of distal 14q in two unrelated patients

artículo científico publicado en 1992

Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait.

artículo científico publicado en 2007

Severe Craniofacial Involvement due to Amniotic Band Sequence

artículo científico publicado en 2018

Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)

artículo científico publicado en 1992

Silent microcephaly: a distinct autosomal dominant trait.

artículo científico publicado en 1983

Silver-Russell syndrome and exclusion of uniparental disomy

scientific article published on 01 December 1996

Spondyloepimetaphyseal dysplasia (SEMD) Shohat type

artículo científico publicado en 1994

Syntactic processing in Turner's syndrome

artículo científico publicado en 2002

The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case

artículo científico publicado el 1 de enero de 2010

True hermaphroditism and sequences. Diagnostic implications regarding two cases

artículo científico publicado en 2008

Two different Philadelphia chromosomes in a cell line from an AML-M0 patient ⬇️

artículo científico publicado el 15 de octubre de 1997

Zimmermann-Laband syndrome: further clinical delineation.

artículo científico publicado en 2005

Lista de obras de Ramirez-Dueñas ML

1,2:3,4-Diepoxybutane Induces Multipolar Mitosis in Cultured Human Lymphocytes

A 9p13-->p24 duplication coupled with a whole 22q translocation onto 9p24

Alphoidless centromere of a familial unstable inverted Y chromosome

Are the faciothoracoskeletal syndrome and the Guadalajara camptodactyly syndrome type I distinct entities?

Assignment of KPNA4 and KPNB1 encoding karyopherin alpha 4 and beta 1 to human chromosome bands 11q22 and 17q21 respectively, by in situ hybridization

Assignment of karyopherin alpha 1 (KPNA1) to human chromosome band 3q21 by in situ hybridization

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome

Benign familial macrocephaly in a mother-son pair

Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6.

Caudal duplication: case report

Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome)

Family history of handedness and language problems in Mexican reading-disabled children

Floating-Harbor syndrome. A neuropsychological approach

Gestational diabetes mellitus and congenital malformations

Guadalajara camptodactyly syndrome type I. A corroborative family.

Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome.

Hardy-Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases

Hb Chiapas alpha 2 114 Pro replaced by Arg beta 2: identification by high pressure liquid chromatography

Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

Lujan syndrome in a Mexican boy.

Methylenetetrahydrofolate reductase gene 677CT polymorphism and isolated congenital heart disease in a Mexican population.

Neuropsychological Impairment in School-Aged Children Born to Mothers With Gestational Diabetes.

Opposite imbalances of distal 14q in two unrelated patients

Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait.

Severe Craniofacial Involvement due to Amniotic Band Sequence

Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)

Silent microcephaly: a distinct autosomal dominant trait.

Silver-Russell syndrome and exclusion of uniparental disomy

Spondyloepimetaphyseal dysplasia (SEMD) Shohat type

Syntactic processing in Turner's syndrome

The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case

True hermaphroditism and sequences. Diagnostic implications regarding two cases

Two different Philadelphia chromosomes in a cell line from an AML-M0 patient ⬇️

Zimmermann-Laband syndrome: further clinical delineation.