| 1 |
Combined immunodeficiency in a patient with mosaic monosomy 21. ( 27216863
)
|
Rechavi E....Somech R.
|
2016 |
| 2 |
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region. ( 25803843
)
|
Brault V....HAcrault Y.
|
2015 |
| 3 |
Deletion of the App-Runx1 region in mice models human partial monosomy 21. ( 26035870
)
|
Arbogast T....Herault Y.
|
2015 |
| 4 |
Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature. ( 24649383
)
|
Burgess T....Pszczola R.
|
2014 |
| 5 |
Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia. ( 24471893
)
|
Cetin Z....Berker Karauzum S.
|
2014 |
| 6 |
Full monosomy 21: echocardiographic findings in the third molecularly confirmed case. ( 22562777
)
|
Fisher D....Lemieux C.A.
|
2013 |
| 7 |
Partial monosomy 21 (q11.2a89q21.3) combined with 3p25.3a89pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay. ( 23031812
)
|
Dos Santos A.P....Gil-da-Silva-Lopes V.L.
|
2013 |
| 8 |
Complete monosomy 21 confirmed by FISH and array-CGH. ( 22407893
)
|
Kulharya A.S....Flannery D.B.
|
2012 |
| 9 |
Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population. ( 22753013
)
|
Hardy P....Hardy K.
|
2012 |
| 10 |
Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3. ( 22482972
)
|
Chen C.P....Wang W.
|
2012 |
| 11 |
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21. ( 21573680
)
|
Martinez-Garcia M....Lorda I.
|
2011 |
| 12 |
Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. ( 20492403
)
|
Manolakos E....Petersen M.B.
|
2010 |
| 13 |
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers. ( 19960447
)
|
van der Kevie-Kersemaekers A.M....Sikkema-Raddatz B.
|
2010 |
| 14 |
Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21. ( 19172430
)
|
Katzenstein J.M....Caudle S.E.
|
2009 |
| 15 |
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21. ( 18674646
)
|
Cardoso L.C....Vargas F.R.
|
2008 |
| 16 |
Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient. ( 17710869
)
|
Utine G.E....TunAsbilek E.
|
2007 |
| 17 |
Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. ( 16449179
)
|
Cheng P.J....Soong Y.K.
|
2006 |
| 18 |
Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. ( 16053908
)
|
Riegel M....Schinzel A.
|
2005 |
| 19 |
A clonal dic(16;21)(p13.1;p11.2)del(16)(q11.1), with gains of several chromosomes and monosomy 21, in a case of splenic hamartoma: evidence for its neoplastic, not hamartomatous, origin. ( 15721639
)
|
Donner L.R....Dobin S.M.
|
2005 |
| 20 |
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. ( 15103721
)
|
Mori M.A....LA^pez-Pajares I.
|
2004 |
| 21 |
Monosomy 21 in hematologic diseases. ( 12699891
)
|
Van Dyke D.L....Wiktor A.
|
2003 |
| 22 |
Additional studies warranted to confirm monosomy 21. ( 11857628
)
|
Phelan M.C.
|
2002 |
| 23 |
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. ( 12150215
)
|
Alkan M....Moser H.
|
2002 |
| 24 |
Maternal origin of monosomy 21 derived from ICSI. ( 11387276
)
|
Ma S....Yuen B.H.
|
2001 |
| 25 |
De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21. ( 11332980
)
|
Riegel M....Pina-Neto J.M.
|
2001 |
| 26 |
Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21. ( 11343311
)
|
Lee C....Morton C.C.
|
2001 |
| 27 |
Prenatal diagnosis of a fetus with megacystis and monosomy 21. ( 11438959
)
|
Chang L.W....Chang F.M.
|
2001 |
| 28 |
Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5. ( 10729227
)
|
Orti R....Delabar J.-M.
|
2000 |
| 29 |
Four novel non-random chromosome rearrangements in B-cell chronic lymphocytic leukaemia: 6p24-25 and 12p12-13 translocations, 4q21 anomalies and monosomy 21. ( 10759714
)
|
Cuneo A....Castoldi G.
|
2000 |
| 30 |
Abnormal clavicles in a neonate with partial monosomy 21. ( 10201044
)
|
Wang S.H....Aftimos S.
|
1999 |
| 31 |
Abnormal clavicles in a neonate with partial monosomy 21 by Wang and Aftimos, New Zealand. ( 10460336
)
|
Azouz E.M.
|
1999 |
| 32 |
A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. ( 9678410
)
|
Flaherty L....Smith A.
|
1998 |
| 33 |
Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization. ( 9110372
)
|
Joosten A.M....Vermeij-Keers C.
|
1997 |
| 34 |
A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature. ( 9128939
)
|
Iqbal M.A....Sakati N.
|
1997 |
| 35 |
Involvement of 8q, 22q, and monosomy 21 in an epithelioid sarcoma. ( 9216728
)
|
Sonobe H....Shimizu K.
|
1997 |
| 36 |
High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1. ( 9226369
)
|
Orti R....Delabar J.M.
|
1997 |
| 37 |
Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. ( 7611297
)
|
Chettouh Z....Chery M.
|
1995 |
| 38 |
Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. ( 7995071
)
|
Doane J.F....Richardson W.P.
|
1994 |
| 39 |
Translocation 4p;21q identified by FISH in a case previously described as "presumptive monosomy 21". ( 7747765
)
|
Yao X.L....Jenkins E.C.
|
1994 |
| 40 |
Thrombocytopenia and cleft hand in monosomy 21. ( 8031538
)
|
Vogels A....Fryns J.P.
|
1994 |
| 41 |
Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies. ( 7747753
)
|
Gill P....Cheng E.
|
1994 |
| 42 |
Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies. ( 8184402
)
|
Ishida A....Takada G.
|
1993 |
| 43 |
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21. ( 7506129
)
|
Hertz B....Jensen P.K.
|
1993 |
| 44 |
De novo t(5p;21q) in a patient previously diagnosed as monosomy 21. ( 8448910
)
|
LA^pez-Pajares I....San Roman C.
|
1993 |
| 45 |
Prenatal detection of monosomy 21 mosaicism. ( 8506217
)
|
Ghidini A....Willner J.
|
1993 |
| 46 |
Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype. ( 1605248
)
|
Krasikov N....Scarbrough P.
|
1992 |
| 47 |
Monosomy 21 in two patients with acute nonlymphocytic leukemia. ( 1638489
)
|
Chang J.J....Chen P.M.
|
1992 |
| 48 |
Expression of LFA-1 by a lymphoblastoid cell line from a patient with monosomy 21: effects on intercellular adhesion. ( 1975779
)
|
Taylor G.M....Brenchley P.
|
1990 |
| 49 |
Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis. ( 3236369
)
|
Dalgleish R....Young I.D.
|
1988 |
| 50 |
Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity. ( 3374538
)
|
Ackerman A.D....Rogers M.C.
|
1988 |
