1 |
Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations.
61
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Rawool A...Phadke SR
|
32482921 |
2020 |
2 |
Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.
61
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Elsheikh A...Al Harasi S
|
31110634 |
2019 |
3 |
Trisomy of the Short Arm of Chromosome 12 Associated with High Cardiovascular Risk: A Case Report.
61
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Fulcheri C...Veglio F
|
30806948 |
2019 |
4 |
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
61
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Mekkawy MK...Zaki MS
|
26749249 |
2016 |
5 |
Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay.
61
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Bose D...Kutty AV
|
25896599 |
2015 |
6 |
Report on 3 patients with 12p duplication including GRIN2B.
61
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Poirsier C...Doco-Fenzy M
|
24503147 |
2014 |
7 |
De novo trisomy 12p in twin girls with different levels of mosaicism.
61
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Lim EC...Tan EC
|
23686734 |
2013 |
8 |
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
61
|
Izumi K...Krantz ID
|
23169682 |
2012 |
9 |
A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate.
61
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Liu YH...Xiong F
|
22959136 |
2012 |
10 |
Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
61
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Pauli S...Bartels I
|
22677035 |
2012 |
11 |
Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH).
61
|
Hung CC...Su YN
|
22248625 |
2012 |
12 |
Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12.
61
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Cetin Z...Luleci G
|
21271652 |
2011 |
13 |
Trisomy 12p syndrome secondary to a balanced familial translocation.
61
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Zen PR...Paskulin GA
|
20723113 |
2010 |
14 |
Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.
61
|
Inage E...Yamamoto T
|
20219705 |
2010 |
15 |
Trisomy 12p and monosomy 4p: phenotype-genotype correlation.
61
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Benussi DG...Pecile V
|
19378504 |
2009 |
16 |
The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.
61
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Smigiel R...Sasiadek MM
|
18000682 |
2008 |
17 |
Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome.
61
|
Battaglia A...Carey JC
|
17163546 |
2007 |
18 |
Moyamoya syndrome in a child with trisomy 12p syndrome.
61
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Kim YO...Chung TW
|
17138018 |
2006 |
19 |
Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.
61
|
Eckel H...Wieacker P
|
16652358 |
2006 |
20 |
The natural history of trisomy 12p.
61
|
Segel R...Bianchi DW
|
16502429 |
2006 |
21 |
Monosomy 5p and trisomy 12p in a boy with familial balanced translocation.
61
|
Vasudevan PC...Parker MJ
|
16531734 |
2006 |
22 |
Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
61
|
Zumkeller W...Stumm M
|
15326625 |
2004 |
23 |
Epilepsy and electroencephalographic findings in pericentric inversion of chromosome 12.
61
|
Grosso S...Balestri P
|
15605470 |
2004 |
24 |
Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
61
|
Ausems MG...De Pater JM
|
15658615 |
2004 |
25 |
Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.
61
|
Leube B...Royer-Pokora B
|
14608653 |
2003 |
26 |
De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon.
61
|
Tekin M...Pandya A
|
11746026 |
2001 |
27 |
Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen.
61
|
Fritz B...Fonatsch C
|
11038438 |
2000 |
28 |
Myoclonic absence-like seizures and chromosome abnormality syndromes.
61
|
Elia M...Aguglia U
|
9637609 |
1998 |
29 |
Trisomy 12p and epilepsy with myoclonic absences.
61
|
Elia M...Cammarata M
|
9545186 |
1998 |
30 |
Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus.
61
|
Plaja A...Sarret E
|
9599652 |
1998 |
31 |
Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21).
61
|
Chen CP...Lin SP
|
9249870 |
1997 |
32 |
A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype.
61
|
el-Shanti H...Patil S
|
9401108 |
1997 |
33 |
Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome".
61
|
Rauch A...Pfeiffer RA
|
8723117 |
1996 |
34 |
Cytogenetic and molecular analysis in trisomy 12p.
61
|
Allen TL...Chance PF
|
8723118 |
1996 |
35 |
Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome.
61
|
Los FJ...in 't Veld PA
|
8750296 |
1995 |
36 |
Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids.
61
|
Zelante L...Rocchi M
|
7889648 |
1994 |
37 |
Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges.
61
|
Guerrini R...Roger J
|
2401247 |
1990 |
38 |
Trisomy 12p mosaicism syndrome.
61
|
Karki CB...Walters RM
|
2139132 |
1990 |
39 |
A case of de novo trisomy 12p syndrome.
61
|
Tayel S...Sharaf EA
|
2758689 |
1989 |
40 |
Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect.
61
|
Steinbach P...Rehder H
|
3476222 |
1987 |
41 |
A case of de novo trisomy 12p syndrome.
61
|
Ray M...Seargeant L
|
3879436 |
1985 |
42 |
[Trisomy 12(pter----q12) and monosomy 21(pter----q21). A propos of a case].
61
|
Arnaud M...Rochiccioli P
|
6527133 |
1984 |
43 |
Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies.
61
|
Stene J...Stengel-Rutkowski S
|
7103412 |
1982 |
44 |
Partial trisomy 12p. A newborn child with karyotype 46,XY,der(11), t(11; 12) (q25; p11) mat. Case report and review.
61
|
Ottolina de Bracamonte N...Hammond Figueroa FG
|
7186725 |
1982 |
45 |
New chromosomal dysmorphic syndromes. 4. Trisomy 12p.
61
|
Stengel-Rutkowski S...Stene J
|
7262097 |
1981 |
46 |
Trisomy-12p syndrome: Family study and prenatal diagnosis.
61
|
Grace HJ...Boughton K
|
7404198 |
1980 |
47 |
Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2.
61
|
Dallapiccola B...Dacha M
|
6967283 |
1980 |
48 |
Ocular findings in cytogenetic syndromes.
61
|
Wilson WA...Donnell GN
|
160518 |
1979 |
49 |
[Report of a further case of trisomy 12p].
61
|
Giorgi PL...Fiori B
|
548876 |
1979 |
50 |
Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations.
61
|
Parslow M...Hunter W
|
457115 |
1979 |