13 research outputs found
Reply to Pragliola et al.
- Publication venue
- The American Society of Human Genetics. Published by Elsevier Inc.
- Publication date
- 31/12/1997
- Field of study
Molecular Manifestations and Molecular Determinants of Telomere Capping
- Publication venue
- 'Cold Spring Harbor Laboratory'
- Publication date
- Field of study
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
- Author
- B S Emanuel
- Bockman D.E.
- Boughman J.A.
- Brunson S.C.
- Budarf M.L.
- Conley M.E.
- D Driscoll
- D M McDonald-McGinn
- E Goldmuntz
- E H Zackai
- Emanuel B.S.
- Feinberg A.
- Ferencz C.
- J A Biegel
- Kelly D.
- Kirby M.L.
- Kirby M.L.
- Lammer E.J.
- Lichter P.
- Litt M.
- M L Budarf
- McDermid H.E.
- Miller M.E.
- Nora J.J.
- Nora J.J.
- Sambrook J.
- Shprintzen R.J.
- Southern E.M.
- Wilson D.I.
- Young D.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Chromosome 22q11 deletion presenting as the Potter sequence.
- Author
- Biedel C.W.
- Bockman D.E.
- Budarf M.L.
- Budarf M.L.
- D Van Schoubroeck
- Devriendt K.
- Devriendt K.
- Driscoll D.A.
- Dunham I.
- Genet Med
- Goodship J.
- J P Fryns
- K Devriendt
- K Vandenberghe
- Lindsay E.A.
- Lipson A.H.
- Meinecke P.
- Mesrobian H.G.J.
- Mitnick R.J.
- Olney A.H.
- Opitz J.M.
- P Moerman
- Palacios J.
- Roodhooft A.M.
- Schuffenhauer S.
- Wadey R.
- Wilson T.A.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.
- Author
- Becker G.J.
- Budarf M.L.
- Callen D.F.
- D Hewitt
- Dressler G.R.
- E Baker
- Eccles M.R.
- Fantes J.
- G R Sutherland
- K Narahara
- Karcher H.
- Legros y Carrenard JR Cortes FM, Sanchez JM
- M R Eccles
- Moschonas N.K.
- R I Richards
- Rieger G.
- S Ito
- S Yu
- Sanyanusin P.
- Sanyanusin P.
- Schimmenti L.A.
- Schinzel A.
- Stapleton P.
- Strachan T.
- Tassabehji M.
- Ton C.C.T.
- Weaver R.G.
- Y Yokoyama
- Publication venue
- Publication date
- 01/01/1997
- Field of study
We describe a 5 year old boy with a de novo t(10;13) translocation and optic nerve coloboma-renal disease (ONCR). On the basis of GTG banding analysis of prometaphase chromosomes, the patient's karyotype was interpreted as either 46,XY,t(10;13)(q24.3;q12.3) or t(10;13) (q25.2;q14.1). Fluorescence in situ hybridisation (FISH) studies using a YAC clone containing the PAX2 gene and YAC clones adjoining FRA10B at 10q25.2 showed that the 10q breakpoint had occurred just within the PAX2 gene and was proximal to FRA10B. These FISH results suggest that the translocation causes a disruption of the PAX2 gene and leads to ONCR, in agreement with the recent reports of PAX2 mutations in two unrelated families with ONCR. Furthermore, we refined the regional mapping of the human PAX2 gene to the junction of bands 10q24.3 and 10q25.1
A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO
- Author
- Adrian Minford
- Ahmed M.A.
- Aldrich R.A.
- Andrew D. Mumford
- Arai M.
- Awidi A.S.
- Awidi A.S.
- Baldini M.G.
- Balduini C.L.
- Balduini C.L.
- Ballmaier M.
- Ballmaier N.
- BCSH
- Bell J.A.
- Bernard J.
- Bevers E.M.
- Bolton-Maggs P.H.
- Breton-Gorius J.
- Buchanan G.B.
- Budarf M.L.
- Burns E.R.
- Caglar K.
- Cattaneo M.
- Cattaneo M.
- Chuansumrit A.
- Cronberg S.
- David J. Perry
- Defreyn G.
- Derry J.M.
- Di Pumpo M.
- DiMichele D.M.
- Elizabeth A. Chalmers
- Favier R.
- Francis J.L.
- Fuse I.
- Fuse I.
- George J.N.
- George J.N.
- Ginsberg M.H.
- Gordon N.
- Grottum K.A.
- Gwynn B.
- Hassan A.A.
- Hayward C.P.
- Hayward C.P.
- Hedberg V.A.
- Hermansky F.
- Horellou M.H.
- Huizing M.
- Hunter N.
- Israels S.J.
- Jantunen E.
- Jennings L.K.
- Jonathan T. Wilde
- Kenney D.M.
- Kentro T.B.
- Khanduri U.
- Klofkorn R.W.
- Kojima H.
- Kosch A.
- Lagarde M.
- Lages B.
- Lascone M.R.
- Liakat A. Parapia
- Lichtin A.
- Liesner R.
- Lind S.E.
- Lind S.E.
- Litzman J.
- Lopez J.A.
- Mannucci P.M.
- Michael D. Williams
- Miller J.L.
- Moffat K.A.
- Montgomery R.R.
- Moroi M.
- Mullen C.A.
- Munnix I.C.
- Murphy S.
- Nieuwenhuis H.K.
- Nurden P.
- Ochs H.D.
- Ochs H.D.
- Parry D.H.
- Paul Harrison
- Paula H. B. Bolton-Maggs
- Peter W. Collins
- Phillips D.R.
- Poon M.C.
- Poon M.C.
- Poujol C.
- Rajasekhar D.
- Rajasekhar D.
- Rao A.K.
- Rao A.K.
- Rao A.K.
- Rao A.K.
- Reichert N.
- Remold-O'Donnell E.
- Ri J. Liesner
- Rodgers R.P.
- Ryo R.
- Samama M.
- Seligsohn U.
- Sheth P.M.
- Sims P.J.
- Sosnoski D.M.
- Stephen Kitchen
- Steve P. Watson
- Stormorken H.
- Stormorken H.
- Stormorken H.
- Summerfield G.P.
- Swank R.T.
- Tamponi G.
- Tengborn L.
- Thompson A.R.
- Van Geet C.
- Vivier M.
- Wall J.E.
- Weiss H.J.
- Weiss H.J.
- Weiss H.J.
- Weiss H.J.
- White D.G.
- Wiskott A.
- Witkop C.J.
- Wu K.K.
- Wun T.
- Zhu Q.
- Publication venue
- 'Wiley'
- Publication date
- 01/12/2006
- Field of study
Mouse Chromosome 9
- Author
- A. Bessis
- A. Rossomando
- A. Varki
- A.E. Reif
- A.G. Searle
- A.G. Searle
- A.J. Lusis
- A.J. Lusis
- A.L. Batchelor
- A.L. Boyle
- B. Fiszer-Szafarz
- B. Paigen
- B. Robert
- B.A. Taylor
- B.A. Taylor
- B.L. Cohen
- C. Blatt
- C. Blatt
- C. Blatt
- C.A. Spencer
- C.E. Hildebrand
- C.J. Lynch
- C.L. Sidman
- C.M. Ballantyne
- C.M. Eng
- C.M. Hearne
- C.T. Teng
- D. Bergeron
- D.C. Regnier
- D.K. Watson
- D.M. Kingsley
- D.M. Kingsley
- D.P. Gold
- D.S. Falconer
- D.W. Bailey
- D.W. Nebert
- E.A. Nichols
- E.M. Eicher
- E.M. Eicher
- E.M. Rinchik
- E.P. Blankenhorn
- F. Bonhomme
- F. Bonhomme
- F. Letourneur
- F. Lilly
- F. Lilly
- F. Lilly
- F.M. Johnson
- F.M. Johnson
- G. Drivas
- G. Siu
- G.A. Breen
- G.D. Snell
- G.D. Snell
- G.J. DeMaeyer
- G.L. Youngblood
- G.W. Krissansen
- H. Czosnek
- H. Gruneberg
- H. Youssoufian
- H.-P. Ottiger
- H.O. Sweet
- I.B. Robson
- J. Boulter
- J. Britton-Davidian
- J. Friedman
- J. Hilgers
- J. Hilgers
- J. Otto
- J. Peters
- J. Peters
- J.-L. Guénet
- J.A. Mercer
- J.A. Todd
- J.C. Wejman
- J.E. Womack
- J.E. Womack
- J.H. Nadeau
- J.H. Nadeau
- J.H. Russell
- J.M. Friedman
- J.M. Love
- J.S. Miles
- K. Itakura
- K. Tomonari
- K.P. Hummel
- L.A. Demmer
- L.B. Russell
- L.D. Siracusa
- L.M. Wang
- L.P. Kozak
- M. Budarf
- M. Kasahara
- M. Potter
- M. Prochazka
- M. Prochazka
- M.C. Green
- M.C. Green
- M.E. Harper
- M.E. Hoatlin
- M.F. Lyon
- M.F. Lyon
- M.F. Seldin
- M.J. Vaessen
- M.L. Rise
- M.M. Dickie
- M.M. Stevenson
- M.N. Nesbitt
- M.N. Nesbitt
- M.N. Nesbitt
- M.S. Deol
- M.S. Deol
- N.A. Jenkins
- N.A. Jenkins
- N.A. Jenkins
- O.H. Deimling von
- P. Amiguet
- P. D'Eustachio
- P. Elsen van den
- P.W. Lane
- P.W. Lane
- P.W. Lane
- P.W. Lane
- R.D. Cox
- R.D. Miller
- R.H. Tukey
- R.J. Cornall
- R.L. Sidman
- R.W. Elliot
- R.W. Elliott
- R.W. Elliott
- R.W. Elliott
- R.W. Elliott
- S. Han
- S. Tutois
- S. Ziemin-van der Poel
- S.C. Williams
- S.C. Williams
- S.E. Bear
- S.E. Bernstein
- S.K. Moore
- S.L. Frank
- S.L. Naylor
- S.L. Naylor
- T. Koizumi
- T.B. Shows
- T.C. Carter
- T.C. Douglas
- T.C. Douglas
- T.C. Douglas
- T.H. Roderick
- T.J. Aitman
- T.K. Antonucci
- T.K. Antonucci
- V.L. Morris
- V.M. Chapman
- V.M. Chapman
- V.S. Baranov
- V.S. Baranov
- W.N. Frankel
- W.N. Frankel
- W.N. Frankel
- W.N. Frankel
- Y. Ben-David
- Y. Ben-David
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1992
- Field of study
Mouse chromosome 9
- Author
- A. Bessis
- A. Rossomando
- A. Varki
- A.E. Reif
- A.G. Searle
- A.G. Searle
- A.J. Lusis
- A.J. Lusis
- A.L. Batchelor
- B. Fiszer-Szafarz
- B. Paigen
- B. Robert
- B.A. Taylor
- B.A. Taylor
- B.C. Chung
- B.L. Cohen
- C. Blatt
- C. Blatt
- C. Blatt
- C. Nguyen
- C. Taisne de
- C.A. Spencer
- C.E. Hildebrand
- C.E. Hildebrand
- C.J. Chern
- C.J. Lynch
- C.L. Sidman
- C.M. Ballantyne
- C.M. Eng
- C.T. Teng
- D.C. Regnier
- D.K. Grandy
- D.K. Watson
- D.M. Kingsley
- D.M. Kingsley
- D.P. Gold
- D.S. Falconer
- D.W. Bailey
- D.W. Nebert
- E.A. Nichols
- E.M. Eicher
- E.M. Eicher
- E.M. Rinchik
- E.P. Blankenhorn
- F. Bonhomme
- F. Bonhomme
- F. Gilbert
- F. Lilly
- F. Lilly
- F. Lilly
- F. Yang
- F. Yang
- F.M. Johnson
- F.M. Johnson
- G. Siu
- G.A. Breen
- G.D. Snell
- G.D. Snell
- G.L. Youngblood
- G.W. Krissansen
- H. Czosnek
- H. Gruneberg
- H. Nakai
- H. Youssoufian
- H.-P. Ottitger
- H.O. Sweet
- I.B. Robson
- J. Britton-Davidian
- J. Friedman
- J. Hilgers
- J. Hilgers
- J. Otto
- J. Peters
- J. Peters
- J. Rijis van
- J.C. Wejman
- J.E. Womack
- J.E. Womack
- J.H. Nadeau
- J.H. Nadeau
- J.H. Russell
- J.L. McCombs
- J.M. Friedman
- J.M. Greve
- J.M. Love
- K. Itakura
- K. Tomonari
- K.P. Hummel
- L.A. Demmer
- L.B. Russell
- L.B. Russell
- L.D. Siracusa
- L.M. Wang
- L.P. Kozak
- L.U. Lamm
- M. Budarf
- M. Kasahara
- M. Potter
- M. Prochazka
- M. Prochazka
- M. Rise
- M.C. Green
- M.C. Green
- M.C. Green
- M.E. Harper
- M.F. Lyon
- M.F. Lyon
- M.J. Vaessen
- M.L. Law
- M.M. Dickie
- M.M. Stevenson
- M.N. Nesbitt
- M.N. Nesbitt
- M.N. Nesbitt
- M.S. Deol
- M.S. Deol
- N.A. Jenkins
- N.A. Jenkins
- N.A. Jenkins
- O. Cohen-Haguenauer
- O. Schamaun
- O.H. Deimling von
- P. Amiguet
- P. Cheung
- P. D'Eustachio
- P. Elsen van den
- P. Meera Khan
- P.G. Board
- P.W. Lane
- P.W. Lane
- P.W. Lane
- P.W. Lane
- R. Voss
- R.D. Miller
- R.H. Tukey
- R.L. Sidman
- R.W. Elliott
- R.W. Elliott
- R.W. Elliott
- R.W. Elliott
- R.W. Elliott
- S. Wei
- S.A. Chen
- S.C. Williams
- S.C. Williams
- S.E. Bear
- S.E. Bernstein
- S.L. Frank
- S.L. Naylor
- S.L. Naylor
- T. Koizumi
- T. Lund
- T. Siddique
- T.B. Shows
- T.C. Carter
- T.C. Douglas
- T.C. Douglas
- T.C. Douglas
- T.H. Roderick
- T.K. Antonucci
- T.K. Antonucci
- U. Francke
- V.M. Chapman
- V.M. Chapman
- V.S. Baranov
- V.S. Baranov
- W.L. Fodor
- W.N. Frankel
- W.N. Frankel
- W.Y. Langdon
- Y. Ben-David
- Y. Takahashi
- Y. Yamamoto
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1991
- Field of study
Mouse chromosome 11
- Author
- A. Ashworth
- A. Ashworth
- A. Ashworth
- A. Bartke
- A. Bartke
- A. Deisseroth
- A. Graham
- A. Gropp
- A. Gropp
- A. Gropp
- A. Gropp
- A. Gropp
- A. Peterson
- A. Smith
- A. Swaroop
- A. Weydert
- A.A. Davies
- A.C. Ferguson-Smith
- A.G. Searle
- A.G. Searle
- A.G. Searle
- A.I. Dayton
- A.J.R. Jonge de
- A.L. Joyner
- A.M. Buchberg
- A.M. Buchberg
- A.M. Killary
- A.P. McMahon
- B. Debuire
- B. Robert
- B.A. Taylor
- B.A. Taylor
- B.A. Taylor
- B.A.J. Ponder
- B.M. Cattanach
- B.M. Cattanach
- B.M. Cattanach
- B.R. Migeon
- B.R. Seizinger
- B.T. Archer III
- B.U. Zabel
- B.U. Zabel
- C. Barletta
- C. Blatt
- C. Boone
- C. Huerre
- C. Kozak
- C. Miller
- C. Schneider
- C.A. Kozak
- C.A. Kozak
- C.E. Keeler
- C.L. Hsieh
- C.M. Disteche
- C.P. Hart
- C.R. Carlin
- C.V. Beechey
- C.V. Beechey
- C.V. Beechey
- C.V. Sundar Raj
- D. Barker
- D. Beeson
- D. Berube
- D. Goldman
- D. Malo
- D. Meruelo
- D. Metcalf
- D. Michie
- D. Michie
- D. Owerbach
- D. Pravtcheva
- D.E. Goldgar
- D.E. Kelton
- D.E. Shupp Byrne
- D.E. Wilson
- D.E. Wilson
- D.H. Ledbetter
- D.J. Tweardy
- D.L. George
- D.L. Steffen
- D.M. Swallow
- D.P. Barlow
- D.S. Falconer
- D.S. Falconer
- D.S. Falconer
- D.W. Bailey
- E. Brownell
- E. Capanna
- E. Capanna
- E. Magenis
- E. Retief
- E.L. Green
- E.M. Eicher
- E.M. Eicher
- E.P. Evans
- E.P. Evans
- E.S. Russell
- E.S. Russell
- E.W. Henry
- F. Artwert
- F. Biddle
- F. Mitelman
- G. Manfioletti
- G.A. Rappold
- G.C. Webb
- G.D. Snell
- G.E. Nasrat
- G.I. Bell
- G.R. Sutherland
- G.R. Sutherland
- G.R. Sutherland
- H. Czosnek
- H. Eiberg
- H. Meier
- H. Roelink
- H. Winking
- H. Winking
- H.G. Uiterdijk
- H.H. Czosnek
- H.O. Sweet
- H.O. Sweet
- H.P. Koeffler
- H.S. Wang
- H.S. Wang
- I. Jackson
- I. Kola
- I. Kondo
- I. Santisteban
- I.D. Adler
- I.J. Mason
- J. Hilgers
- J. Hozier
- J. Peters
- J. Seharaseyon
- J. Silver
- J. Staats
- J. Staats
- J. Stahl
- J.-L. Guénet
- J.B. Whitney III
- J.C. Chrivia
- J.D. Mishkin
- J.E. Landegent
- J.G. Compton
- J.H. Nadeau
- J.H. Nadeau
- J.H. Nadeau
- J.M. Ferguson
- J.M. Love
- J.N. Ihle
- J.P. Sanford
- J.S. Lee
- J.S. Lee
- J.S. Mackensen
- J.S. Wainscoat
- K. Heubner
- K. Huebner
- K. Huebner
- K. Said
- K.M. Kirk
- K.S. Chang
- L. Bernier
- L. Coussens
- L. Coussens
- L. Pajunen
- L. Zech
- L.A. Cannizzaro
- L.A. Klobutcher
- L.A. Leinwand
- L.C. Showe
- L.D. Bogarad
- L.L. Jackson-Grusby
- M. Budarf
- M. Cho
- M. Danciger
- M. Frater-Schroder
- M. Frater-Schroder
- M. Isobe
- M. Levine
- M. Mehrabian
- M. Munke
- M. Munke
- M. Munke
- M. Rabin
- M. Rosenberg
- M. Takahashi
- M.D. Hoggan
- M.D. Miller
- M.E. Harper
- M.E. Wallace
- M.E. Wright
- M.F. Lyon
- M.F. Lyon
- M.F. Lyon
- M.F. Lyon
- M.F. Lyon
- M.G. Mattei
- M.G. Mattei
- M.J. Pettenati
- M.L. Law
- M.L. Summar
- M.M. Beau Le
- M.M. Beau Le
- M.M. Beau Le
- M.M. Beau Le
- M.M. Dickie
- M.M. Dickie
- M.M. Dickie
- M.S. Bartolomei
- M.S. Buckwalter
- M.S. Do
- M.T. Davison
- M.T. Davisson
- M.T. Davisson
- M.T. Davisson
- N. Dobrovolskaia-Zavadskaia
- N. Kanda
- N. Shimizu
- N.A. Jenkins
- N.A. Jenkins
- N.C. Popescu
- N.C. Popescu
- N.K. Spurr
- N.M. Gough
- O. Cohen-Haguenauer
- O. Heidmann
- O.J. Miller
- O.W. McBride
- P. D'Eustachio
- P. Lonai
- P. Neumann
- P. O'Connell
- P. Tsipouras
- P. Tuinen van
- P.B. Mather
- P.C. Brooker
- P.C. Brooker
- P.W. Lane
- P.W. Lane
- P.W. Lane
- R. Jaenisch
- R. Kucherlapati
- R. Nusse
- R. Zakut-Houri
- R.A. Fisher
- R.A. Popp
- R.A. Popp
- R.E. Magenis
- R.N. Simmers
- R.S. Holmes
- R.S. Holmes
- R.S. Sparkes
- R.W. Elliott
- S. Adolf
- S. Benchimol
- S. Mazan
- S. Mazan
- S. Miyatake
- S. Miyatake
- S. Pagliusi
- S.-I. Fukushige
- S.C. Jhanwar
- S.D. Wilson
- S.G. Irving
- S.H. Rider
- S.K. Michael
- S.K. Moore
- S.M. Elsevier
- S.P. Flanagan
- S.V. Cheng
- T. Miki
- T. Watanabe
- T.C. Carter
- T.C. Carter
- T.C. Peterson
- T.H. Roderick
- T.H. Roderick
- T.J. Robinson
- T.L. Yang-Feng
- T.L. Yang-Feng
- T.L. Yang-Feng
- U.K. Rout
- V. Romano
- V. Rotter
- V.J. Buckle
- W. Xu
- W.C. Morgan
- W.E. Heston
- W.E. Heston
- W.J. Keir
- W.J. Rettig
- W.N. Frankel
- W.N. Frankel
- W.N. Frankel
- W.R. Weimar
- Y. Kaneko
- Y.H. Edwards
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1991
- Field of study