1 |
Distal Xq duplication and functional Xq disomy.
61
52
|
Sanlaville D...Turleau C
|
19232094 |
2009 |
2 |
Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.
61
52
|
Cheng SF...Cotter PD
|
15887264 |
2005 |
3 |
Growth retardation, developmental delay and dysmorphic features in a girl with a partial duplication of Xq.
52
|
Donnelly DE...McKee S
|
21326093 |
2011 |
4 |
De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.
52
|
Armstrong L...Allanson JE
|
12476455 |
2003 |
5 |
A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review.
61
|
Parissone F...Gaudino R
|
31938033 |
2020 |
6 |
A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization.
61
|
Papoulidis I...Manolakos E
|
29606911 |
2018 |
7 |
Genomic studies of multiple myeloma reveal an association between X chromosome alterations and genomic profile complexity.
61
|
Sticca T...Bours V
|
27454822 |
2017 |
8 |
Data on affected cancer-related genes in pediatric t(12;21)-positive acute lymphoblastic leukemia patients harboring unbalanced der(6)t(X;6) translocations.
61
|
Kjeldsen E
|
27508240 |
2016 |
9 |
Oligo-based aCGH analysis reveals cryptic unbalanced der(6)t(X;6) in pediatric t(12;21)-positive acute lymphoblastic leukemia.
61
|
Kjeldsen E
|
27215399 |
2016 |
10 |
A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion.
61
|
Stoklasova J...Lebl J
|
27459301 |
2016 |
11 |
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
61
|
Melchior L...Tumer Z
|
23894120 |
2013 |
12 |
Cryptic x; autosome translocation in a boy--delineation of the phenotype.
61
|
Jezela-Stanek A...Krajewska-Walasek M
|
21310340 |
2011 |
13 |
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.
61
|
Velinov M...Brown WT
|
19090026 |
2009 |
14 |
Combined high-resolution array-based comparative genomic hybridization and expression profiling of ETV6/RUNX1-positive acute lymphoblastic leukemias reveal a high incidence of cryptic Xq duplications and identify several putative target genes within the commonly gained region.
61
|
Lilljebjorn H...Fioretos T
|
17690704 |
2007 |
15 |
De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern.
61
|
Tachdjian G...Labrune P
|
15526291 |
2004 |
16 |
Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family.
61
|
Hou JW
|
15605909 |
2004 |
17 |
De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype.
61
|
Tihy F...Dallaire L
|
10588834 |
1999 |
18 |
Primary amenorrhea with Xq duplication.
61
|
Rajangam S...Thomas IM
|
10798023 |
1999 |
19 |
De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.
61
|
Correa-Cerro L...Sanchez-Corona J
|
10214506 |
1999 |
20 |
Prader-Willi-like syndrome in a patient with an Xq23q25 duplication.
61
|
Monaghan KG...Feldman GL
|
9843044 |
1998 |
21 |
Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.
61
|
Carrozzo R...Zuffardi O
|
9332664 |
1997 |
22 |
A new syndrome with mental retardation, short stature and an Xq duplication.
61
|
Thode A...Turner G
|
3177451 |
1988 |
23 |
Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27).
61
|
Morichon-Delvallez N...Bourdrel V
|
3261146 |
1988 |
24 |
Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.
61
|
Schwartz S...Cohen MM
|
3459356 |
1986 |
25 |
Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency.
61
|
Nielsen LB...Andersen E
|
7129418 |
1982 |
26 |
A duplication-deficiency X chromosome in a girl with severe mental retardation.
61
|
Sacchi N...Kehyayan E
|
7390498 |
1980 |