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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.
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

Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.

Author: A C Berry
Bridgman G.
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

A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.

Author: A Giannotti
B Dallapiccola
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

Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.

Author: A M Migliorini
de la Chapelle A
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

Eleven new cases of del(9p) and features from 80 cases.

Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).

Author: A E Lin
A Milunsky
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

Partial 8 trisomy by 3∶1 segregation of balanced maternal translocation t(6q+; 8q−)

Author: C.E. Clark
E.F. Allen
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

Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

Author: Andre M.J.
Aurias A.
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

Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.

Author: Angell R.
Atkins L.
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

Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Author: 18
Abrisqueta J.A.
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

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