Detalhe da pesquisa
1.
Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.
Am J Med Genet A
; 182(4): 773-779, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31999076
2.
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Am J Med Genet A
; 176(11): 2382-2388, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30329210
3.
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.
J Assist Reprod Genet
; 33(2): 189-97, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26637389
4.
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.
Am J Med Genet A
; 167A(2): 445-9, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25756154
5.
[Systemic sclerosis. Part 2. Epigenetic factors in the pathogenesis of clinical manifestations]. / Twardzina ukladowa. Czesc 2. Czynniki epigenetyczne w patogenezie objawów klinicznych.
Przegl Lek
; 72(1): 25-30, 2015.
Artigo
Polonês
| MEDLINE | ID: mdl-26076574
6.
Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).
J Hum Genet
; 59(12): 667-74, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25319850
7.
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.
Clin Genet
; 95(4): 534-536, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30633344
8.
[Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20]. / Ocena prawdopodobienstwa wystapienia róznych patologii ciazy w rodzinach nosicieli translokacji chromosomowych wzajemnych angazujacych chromosom 20.
Ginekol Pol
; 84(6): 422-9, 2013 Jun.
Artigo
Polonês
| MEDLINE | ID: mdl-24032259
9.
[Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7]. / Ocena prawdopodobienstwa urodzenia dziecka z niezrównowafonym kariotypem oraz ryzyka wystqpienia róznych patologii ciazy w rodzinach nosicieli translokacji chromosomowych wzajemnych angazujacych chromosom 7.
Ginekol Pol
; 84(12): 992-1004, 2013 Dec.
Artigo
Polonês
| MEDLINE | ID: mdl-24505946
10.
[Systemic sclerosis. Part 1: searching for genetic determinants]. / Twardzina ukladowa. Czesc 1: poszukiwanie genetycznych uwarunkowan.
Przegl Lek
; 69(9): 687-93, 2012.
Artigo
Polonês
| MEDLINE | ID: mdl-23401990
11.
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 â pter.
Am J Med Genet A
; 155A(8): 1833-47, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21744486
12.
Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees.
Am J Med Genet A
; 146A(20): 2611-6, 2008 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18798317
13.
[Probability rates for different pregnancy outcomes in carriers of reciprocal chromosomal translocations involving chromosome 13]. / Prawdopodobienstwo wystapienia róznych patologii ciazy w rodzinach nosicieli translokacji chromosomowych wzajemnych angazujacych chromosom 13.
Ginekol Pol
; 79(7): 477-82, 2008 Jul.
Artigo
Polonês
| MEDLINE | ID: mdl-18819454
14.
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.
J Androl
; 28(2): 262-72, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17021336
15.
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.
Cancer Genet
; 216-217: 1-9, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29025581
16.
Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.
Mol Cytogenet
; 10: 29, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28785312
17.
Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male.
Mol Cytogenet
; 7(1): 14, 2014 Feb 21.
Artigo
Inglês
| MEDLINE | ID: mdl-24559467
18.
Chromatin structure analysis of spermatozoa from reciprocal chromosome translocation (RCT) carriers with known meiotic segregation patterns.
Reprod Biol
; 13(3): 209-20, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24011192
19.
Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa.
Am J Med Genet A
; 140(3): 245-56, 2006 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16411217
20.
Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.
Ann Genet
; 47(1): 11-28, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15050871