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10 research outputs found
A Case Report: Hypertelorism, Microtia, Cleft Palate with a de novo Balanced Chromosome Translocation, t(1q –; 7p+)
Author
Baraitser M.
Funderburk S.J.
+4Â more
Goodman R.M.
Izuka T.
Mitani H.
Tharapel A.T.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11)
Author
Borgaonkar D.S.
DBirth Bergsma
+6Â more
H C Neale
H. E Dockery
McKusick V.A.
P H Fitzgerald
Tharapel A.T.
Vormittag W.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the same villi.
Author
A T Tharapel
Breed A.S.P.M.
+12Â more
Callen D.F.
HoggeWA Schonberg S.A.
J L Simpson
Kalousek D.K.
L P Shulman
Ledbetter D.H.
M B Qumsiyeh
Mikkelsen M.
S Elias
Simoni G.
Tharapel A.T.
Vejerslev L.O.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.
Author
A Aukett
Atkins L.
+14Â more
D A Thomson
Goodpasture C.
J G Bissenden
J L Watt
Lieber E.
M J Clarke
M J Griffiths
Seabright M.
Sears E.R.
Snyder L.
Sumner A.T.
Tharapel A.T.
Vianna-Morgante A.M.
Zellweger H.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
1, 9, and 16 C-band heteromorphisms in parents of Down's syndrome patients: Distribution and etiological significance
Author
A.P. Craig-Holmes
A.T. Summer
+19Â more
A.T. Tharapel
D. Mason
H.A. Lubs
I. Halbrecht
J. Matsuura
J. Nielsen
J. Nielsen
J. Nielsen
J.H. Ford
J.L. Hamerton
O.A. Podugolnikova
O.A. Podugolnikova
P. Balićek
P.A. Jacobs
Patricia H. Lopetegui
S.R. Patil
T. Sofuni
V.A. Benyush
W.H. McKenzie
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Hydatidiform mole: parental chromosome aberrations in partial and complete moles.
Author
Buckton K.
Jacobs P.A.
+13Â more
Jacobs P.A.
Jacobs P.A.
Kajii T.
L O Vejerslev
Lawler S.D.
Lawler S.D.
Lawler S.D.
N Wake
R A Fisher
Szulman A.E.
Tharapel A.T.
U Surti
Wake N.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Three patients with a 45,X/46,X,psu dic(Xp) karyotype.
Author
B Coppin
D Skuse
+32Â more
Daniel A.
Fryns J.P.
Geerkens C.
Hook E.B.
Hudson T.J.
Jacobs P.
Jalal S.M.
Jones M.H.
Laca Z.
Madan K.
Midro A.T.
Miller S.A.
Mirzayants G.G.
Ogata T.
Ogata T.
P Dalton
P Jacobs
Petit P.
Pettigrew A.L.
Pinkel D.
Polani P.E.
Ponzio G.
R James
Robertson J.
Skuse D.H.
Tharapel A.T.
Therman E.
Therman E.
Therman E.
Therman E.
Wolff D.J.
Yu C.W.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Cytogenetic study of women with premature ovarian failure
Author
Abruzzo M.A.
Aiman J.
+26Â more
Alper M.M.
Coulam C.B.
Coulam C.B.
Cramer D.W.
Denise Pagni
Devi A.
Fang J.S.
Fitzgerald P.H.
Ford J.H.
Gandar R.
Griffin F.G.
Guttenbach M.
Kormann-Bortolotto M.H.
Maria Isabel Melaragno
Mattison D.R.
Mumm S.
Méhes K.
Nowinski G.P.
Partington M.W.
Powell C.M.
Ribeiro M.C.
Sanchez O.
Singh R.P.
Tharapel A.T.
Therman E.
Vianna-Morgante A.M.
Publication venue
'FapUNIFESP (SciELO)'
Publication date
Field of study
No full text
Crossref
Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.
Author
A P Read
Book J.A.
+40Â more
C McKeown
Carey J.C.
Chemke J.
D Donnai
David M.
Dewald G.
Ellis JR, Marshall
Ferrier P.
Findlay G.H.
Fryns J.P.
Fulton A.B.
Graham J.M.
Groshans E.M.
Happle R.
Happle R.
Happle R.
Ito M.
Jackson R.
Jeffreys A.J.
Jelinek J.E.
Jenkins M.E.
l6 Schmid W
Lejeune J.
lx Sacrez R
Maniatis T.
McLaren A.
Niebuhr E.
Pettenati M.J.
Quiroz E.
Rott H.D.
Rubin M.B.
Schwartz M.F.
T Andrews
Takematsu H.
Tharapel A.T.
Thomas I.T.
Turleau C.
van den Berghe H
Wettke-Schafer R.
Wittwer B.B.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Laboratory Testing for Prader-Willi Syndrome
Author
A. Baumer
A. Buller
+75Â more
A. Mutirangura
A. Schulze
A. Smith
A.L. Carrel
A.M.W. Ouweland van den
A.T. Tharapel
ASHG/ACMG (American Society of Human Genetics/American College of Medical Genetics) Test and Technology Transfer Committee
B. Dittrich
B. Dittrich
B. Dittrich
B. Horsthemke
B. Muralidhar
C. Fridman
C. Glenn
C. Mignon
C.C. Glenn
C.C. Glenn
C.D. Kuslich
C.J. Hawkey
D.H. Ledbetter
D.H. Ledbetter
E. Herman
G. Gillessen-Kaesbach
H.R. Slater
I. Lerer
J. Worm
J.E. Ming
J.H.M. Knoll
J.M. Conroy
J.P. Park
J.S. Sutcliffe
K. Buiting
K. Buiting
K. Buiting
K. Buiting
K. Buiting
K. Glatt
K. Kosaki
K.A. Chotai
K.G. Monaghan
K.S. Tenner
L. Cuisset
M. Hulten
M. Velinov
M. Velinov
M. Velinov
M. Zeschnigk
M. Zeschnigk
M.E. McEntagart
M.G. Butler
M.G. Butler
M.G. Butler
M.G. Butler
M.G. Butler
M.G. Butler
M.J. Lee
M.M. Matin
P. Malzac
P. Ungaro
P.K. Rogan
R. Wevrick
R.D. Nicholls
S. Rineer
S. Silverstein
S.A. Berend
S.B. Cassidy
T. Buchholz
T. Buchholz
T. Kubota
T. Kubota
T. Kubota
T. Ohta
W.P. Robinson
W.P. Robinson
Y. Sun
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2006
Field of study
No full text
Crossref