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14 research outputs found
Prenatal Diagnosis of an Inherited Translocation Between Chromosomes No. 9 and 18
Author
A. J. Ebbin
Biihler V.K.
+7Â more
Ilbery P.L.T.
J. P. Slaughter
J. W. Towner
M. G. Wilson
Migeon B.R.
Punnett H.H.
Rethore M.O.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.
Author
A C Berry
Bridgman G.
+9Â more
C Ball
Gencik A.
Greenberg F.
Herve J.
Koenig R.
M M Lai
P N Scriven
Rethore M.O.
Rodewald A.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.
Author
A Giannotti
B Dallapiccola
+13Â more
B Porfirio
Crescentini G.
G Ferranti
G Novelli
Hassold T.
Huehns E.R.
Jenkins M.B.
Johnson V.P.
L Pasquini
Martin A.O.
Murken J.D.
Rethore M.O.
Turleau C.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.
Author
A M Migliorini
de la Chapelle A
+10Â more
G Castineyra
J M Sanchez
Niebuhr E.
Pfeiffer R.A.
R Coco
Rethore M.O.
Stoll C.
T C De Negrotti
Wahrman J.
Williams J.D.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Eleven new cases of del(9p) and features from 80 cases.
Author
Alfi O.S.
Alfi O.S.
+59Â more
Alfi O.S.
Allderdice P.W.
B Forestier
Bergamo F.
Berger R.
Breg W.R.
Buckton K.E.
C Leonard
Condron C.J.
Crane J.
de Grouchy J
Eden M.S.
Elliott D.
Fallstrom S.P.
Fryns J.P.
Funderburk S.J.
Hahn D.A.
Hernandez A.
Hoo J.J.
Hoo J.J.
Hoo J.J.
Hoo J.J.
Howard-Peebles P.N.
Huret J.L.
In Rethore M.O.
J L Huret
J Lejeune
Jones L.A.
Jotterand M.
Junien C.
Kadotani T.
Kadotani T.
Kuroki Y.
Lajarrige C.
Liberfarb R.M.
M O Rethore
M Bricarelli F.D.Magnani
Monaghan H.P.
Monteleone P.
Muke J.
Mulcahy M.T.
Nielsen J.
Orye E.
Pavone L.
Pratt N.R.
Prieto F.
Rethore M.O.
Rutten F.J.
Schinzel A.
Sekhon G.S.
Serville F.
so Rosenthal IM
ss Rethore MO
Steinbach P.
Szymanska J.
Wisniewski L.
Young R.S.
Young R.S.
Zabel B.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).
Author
A E Lin
A Milunsky
+18Â more
B R Haddad
Cuoco C.
Fryns J.P.
Fujimoto A.
H Wyandt
Mattina T.
Motegi T.
Nichols P.
Petty E.M.
Phelan M.C.
Preus M.
Rethore M.O.
Rivera J.
Smart R.D.
Wajntal A.
Wilson G.N.
Young R.S.
Zadeh T.M.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Partial 8 trisomy by 3∶1 segregation of balanced maternal translocation t(6q+; 8q−)
Author
C.E. Clark
E.F. Allen
+20Â more
G.I. Lazjuk
H. MorenoFuenmayor
H.A. Chiyo
Hajime Kudo
I.M. Rosenthal
J.F. Mattei
K. Hongell
K.M. Taylor
Keiji Kogame
L.A. Jones
M.O. Rethore
P.K.A. Jensen
R.G. Weleber
R.M. Fineman
S. Sonta
S. Yanagisawa
S. Yanagisawa
S.J. Funderburk
S.J. Funderburk
V.M. Riccardi
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.
Author
Andre M.J.
Aurias A.
+19Â more
Benn P.A.
Boue A.
D T Bulugahapitiya
de Muelenaere A
Harrod M.J.E.
Hemmings L.
Holborth N.
Jalbert P.
Melnyk A.R.
Mikkelsen M.
N R Pratt
Nielsen J.
Part I.
Rethore M.O.
Roberts S.H.
Savary J.B.
Stene J.
true
Zabel B.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.
Author
Angell R.
Atkins L.
+29Â more
Bahr G.F.
Bonfante A.
Boue A.
Bourrouillou G.
Daniel A.
Fineman R.M.
Flatz S.
Fryns J.P.
Fryns J.P.
Hill F.S.
Hsu T.C.
Jacobs P.A.
Johnson V.P.
L Boyd
Lau Y.F.
M B Jenkins
Martin A.D.
Miller J.Q.
Murken J.D.
Niebuhr E.
R Kriel
Rehder H.
Rethore M.O.
Steffensen D.M.
Taysi K.
Trunca C.
Verjaal M.
Vianna-Morgante A.
Yunis E.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.
Author
18
Abrisqueta J.A.
+143Â more
Abuelo D.
Andrle M.
Archidiacono N.
Armendares S.
Armendares S.
Aurias A.
Ayraud N.
B Sele
Baccichetti C.
Back E.
Balicek P.
Ballesta F.
Bartsch-Sandhoff M.
Bass H.N.
Bauknecht Th
Berger R.
Berghe H.
Biederman B.
Biederman B.
Blank C.E.
Borgaonkar D.S.
Breuning M.H.
Brimblecombe F.S.W.
Burnham C.R.
Cantu J.M.
Castel Y.
Centerwall W.
Centerwall W.R.
Cervenka J.
Chaganti R.S.K.
Chiyo H.A.
Chiyo H.A.
Coco R.
Cohen M.M.
Cohen M.M.
Dallapiccola B.
Darmady J.M.
Dutrillaux B.
Forabosco A.
Ford C.E.
Fraisse J.
Fried K.
Fried K.
Fu W.N.
Garlinger P.
Garrett J.H.
Genest P.
Giovannelli G.
Giraud F.
Grace E.
Habedank M.
Hamerton J.
Hansteen I.L.
Hobolth N.
Hoo J.J.
Howard-Peebles P.N.
Hustinx Th W.J.
Hustinx Th W.J.
Issa M.
Jenkins M.B.
Johnson G.
Johnson G.
Jotterand M.
Kajii T.
Kessel E.
Kim H.J.
Kr0yer S.
Lange M.
Larson L.M.
Laurent C.
Laurent C.
Laurent C.
Laurent C.
Lejeune J.
Lewis K.R.
Lindenbaum R.H.
Lord P.M.
Lurie I.W.
Madan K.
Mason M.K.
McClintock B.
McDermott A.
Moirot H.
Moric-Petrovic S.
Moric-Petrovic S.
Mulcahy M.T.
Nakagome Y.
Nakagome Y.
Niazi M.
Nielsen J.
Nielsen J.
Orye E.
Osztovics M.
Owen L.
P Jalbert
Pena S.D.J.
Penchaszadeh V.B.
Penchaszadeh V.B.
Pfeiffer R.A.
Pfeiffer R.A.
Philippe N.
Podruch P.E.
Prieur M.
Raoul O.
Raoul O.
Rethore M.O.
Rethore M.O.
Rethore M.O.
Rethore M.O.
Rolland M.
Rosenmann A.
Roux C.
Saadi A.A.
Sanchez O.
Schinzel A.
Schrott H.G.
Schwanitz G.
Schwanitz G.
Schwanitz G.
Short E.M.
Sills J.A.
Simpson J.
Spaikes R.S.
Stern L.M.
Stoll C.
Stoll C.
Subrt I.
Surana R.B.
Taylor K.M.
Turleau C.
Turleau C.
Turleau C.
Turleau C.
Turleau C.
Vogel W.
Wilroy R.S.
Wright Y.
Young S.R.
Yunis E.
Yunis E.
Zabel B.
Zabel B.
Zabel B.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
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