Lista de obras - A T Midro - Dominio Público Uruguay

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation

artículo científico publicado en 2018

A molecular epidemiology study in women from Upper Silesia, Poland.

artículo científico publicado en 1998

Abnormalities in tooth morphology, structure and dentition in two children with chromosome aberrations. Translocation trisomy 13 and trisomy 21.

artículo científico publicado en 2008

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

scientific article published on 02 June 2020

Chromatin structure analysis of spermatozoa from reciprocal chromosome translocation (RCT) carriers with known meiotic segregation patterns

artículo científico publicado en 2013

Chromosome (re)positioning in spermatozoa of fathers and sons - carriers of reciprocal chromosome translocation (RCT)

scientific article published on 01 February 2019

Clonal chromosomal aberrations in Philadelphia negative cells such as monosomy 7 and trisomy 8 may persist for years with no impact on the long term outcome in patients with chronic myeloid leukemia

artículo científico publicado en 2017

Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.

artículo científico publicado en 2015

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures.

artículo científico publicado en 2014

Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24.

artículo científico publicado en 2001

Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male

artículo científico publicado en 2014

Experiences with risk estimates for carriers of chromosomal reciprocal translocations.

artículo científico publicado en 1992

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

artículo científico publicado en 2008

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

artículo científico publicado en 2008

Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

artículo científico publicado en 2004

Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X

scientific article published on 01 January 2004

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

artículo científico publicado en 2000

Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I

artículo científico publicado en 2002

Haptoglobin glycoforms in a case of carbohydrate-deficient glycoprotein syndrome

scientific article published on 01 October 1999

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

artículo científico publicado en 2004

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

artículo científico publicado en 2010

Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.

artículo científico

MTRNR2L12: A Candidate Blood Marker of Early Alzheimer's Disease-Like Dementia in Adults with Down Syndrome

artículo científico publicado en 2015

Measurement of cytogenetic endpoints in women environmentally exposed to air pollution.

artículo científico publicado en 1999

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

artículo científico publicado en 2015

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

scientific article published on 11 January 2019

Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7

artículo científico publicado en 2013

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2.

artículo científico publicado en 2009

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

artículo científico publicado en 2014

Rett syndrome in females with CTS hot spot deletions: a disorder profile

scientific article published on 01 January 2005

Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)

article

Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20

artículo científico publicado en 2013

Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa

scientific article published on 01 February 2006

Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25

artículo científico publicado en 1993

Sister-chromatid exchanges in patients with reproductive loss

artículo científico publicado en 1982

The analysis of meiotic segregation patterns and aneuploidy in the spermatozoa of father and son with translocation t(4;5)(p15.1;p12) and the prediction of the individual probability rate for unbalanced progeny at birth.

artículo científico publicado en 2006

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations ⬇️

artículo científico publicado el 1 de enero de 1998

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene

scientific article published on 30 January 2020

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

artículo científico publicado en 2011

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

scientific article published on 04 August 2007

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

artículo científico publicado en 2008

XYY syndrome and acute myeloblastic leukemia

scientific article published on 01 February 1987

Lista de obras de A T Midro

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation

A molecular epidemiology study in women from Upper Silesia, Poland.

Abnormalities in tooth morphology, structure and dentition in two children with chromosome aberrations. Translocation trisomy 13 and trisomy 21.

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

Chromatin structure analysis of spermatozoa from reciprocal chromosome translocation (RCT) carriers with known meiotic segregation patterns

Chromosome (re)positioning in spermatozoa of fathers and sons - carriers of reciprocal chromosome translocation (RCT)

Clonal chromosomal aberrations in Philadelphia negative cells such as monosomy 7 and trisomy 8 may persist for years with no impact on the long term outcome in patients with chronic myeloid leukemia

Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures.

Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24.

Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male

Experiences with risk estimates for carriers of chromosomal reciprocal translocations.

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I

Haptoglobin glycoforms in a case of carbohydrate-deficient glycoprotein syndrome

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.

MTRNR2L12: A Candidate Blood Marker of Early Alzheimer's Disease-Like Dementia in Adults with Down Syndrome

Measurement of cytogenetic endpoints in women environmentally exposed to air pollution.

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2.

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

Rett syndrome in females with CTS hot spot deletions: a disorder profile

Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)

Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20

Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa

Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25

Sister-chromatid exchanges in patients with reproductive loss

The analysis of meiotic segregation patterns and aneuploidy in the spermatozoa of father and son with translocation t(4;5)(p15.1;p12) and the prediction of the individual probability rate for unbalanced progeny at birth.

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations ⬇️

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

XYY syndrome and acute myeloblastic leukemia