5 research outputs found
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
- Author
- A O Wilkie
- Barker D.
- Cawthon R.M.
- Chomczynski P.
- E Sorour
- Golgar D.E.
- Grimm T.
- H E Hughes
- Huson S.M.
- Huson S.M.
- J Maynard
- Jadayel D.
- Kayes L.M.
- Kayes L.M.
- Ketterling R.P.
- Korf B.
- Lazaro C.
- M Upadhyaya
- M Vaughan
- Marchuk D.A.
- Morton N.E.
- Neitzel H.
- P W Thompson
- Purandare S.M.
- Rodenhiser D.
- S H Roberts
- Schmickel R.D.
- Seabright M.
- Seizinger B.R.
- Shimmin L.C.
- Stephans K.
- Tint G.S.
- Upadhyaya M.
- Upadhyaya M.
- Upadhyaya M.
- Upadhyaya M.
- Upadhyaya M.
- Viskochil D.H.
- Wallace M.R.
- Wheater R.F.
- Xu G.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textFamilial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.
- Author
- Allanson J.E.
- Allanson J.E.
- Amir N.
- Ardinger H.H.
- Barker D.W.
- C J van Asperen
- Cnossen M.H.
- Cole T.R.P.
- Cole T.R.P.
- Colley A.
- Coppin B.
- D A van Tijn
- Dumic M.
- Easton D.F.
- Flintoff W.F.
- Huson S.M.
- Jalaquier J.
- Kaplan P.
- Kayes L.M.
- Legius E.
- Leppig K.A.
- M H Cnossen
- Majewski F.
- Mendez H.M.M.
- Milot E.
- MM Jr, Cohen
- National Institute of Health
- Proud V.K.
- R C Hennekam
- Roussounis S.H.
- Scarono G.
- Sharland M.
- Stoll C.
- Tassbehji M.
- Teebi A.S.
- true
- Upadhyaya M.
- W C Overweg-Plandsoen
- Watson G.H.
- Westerhof W.
- Wu B.L.
- Wu B.L.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textClinical and genetic patterns of neurofibromatosis 1 and 2.
- Author
- 0 Gans
- Akenside M.
- Allanson J.
- Andersen L.B.
- Andersen L.B.
- Ballester R.
- Boltshauser E.
- Bouzas E.A.
- Brownstein S.
- Burke J.P.
- Cancer Vogelstein B.
- Carnevale A.
- Cavenee W.K.
- Cawthon R.
- Charles S.J.
- Collins E.T.
- Cotlier E.
- Crowe F.W.
- Cunliffe I.A.
- DestroM D.'Amico D.J.
- Dossetor F.M.
- Downward J.
- El-Azouzi M.
- Eldridge R.
- Eldridge R.
- Evans D.G.R.
- Feiling A.
- Gallie B.
- Gardner W.J.
- Garretto N.S.
- Gartner S.
- Gass J.
- Glover T.W.
- Goldsmith J.
- Good W.
- Gutmann D.H.
- Gutmann D.H.
- Hall A.
- Hecht F.
- Hitchcock A.
- Hochstrasser H.
- Hofman K.J.
- Hoyt W.F.
- Imes R.K.
- Imes R.K.
- Jayadel D.
- Kaiser-Kupfer M.
- Kanter W.R.
- Kaye L.
- Kayes L.M.
- Kinzler K.W.
- Knudson A.G.J.
- Kunze J.
- Kurosawa A.
- Landau K.
- Ledbetter D.H.
- Lee D.K.
- Legius E.
- Levine A.J.
- Lewis R.A.
- Li Y.
- Madigan P.
- Madigan P.
- Marchuk D.A.
- Marshall D.
- Martin G.A.
- Martuza R.
- Martuza R.L.
- Mayfrank L.
- Menon A.G.
- Menon A.G.
- Menon A.G.
- Miller M.
- Mulvihill M.J.H.
- Musarella M.A.
- N K Ragge
- Narod S.
- Nigro J.M.
- Nordmann J.
- O'Connell P.
- Ober W.
- Packer R.J.
- Palmer M.
- Parry D.M.
- Pearson-Webb M.
- Perry H.
- Pulst S.M.
- Ragge N.K.
- Riccardi V.
- Riccardi V.M.
- Riccardi V.M.
- Riccardi V.M.
- Riccardi V.M.
- Riccardi V.M.
- Rouleau G.A.
- Rouleau G.A.
- Rush J.A.
- Saran N.
- Seidel H.
- Seiff SR, Brodsky
- Seizinger B.R.
- Seizinger B.R.
- Seizinger B.R.
- Seizinger B.R.
- Shannon K.M.
- Shapland C.D.
- Sidransky D.
- Sivalingam A.
- Skuse G.R.
- Smith R.W.
- Snell S.
- Southern E.
- Spencer W.H.
- Srivastava S.
- Stark M.
- Stern J.
- Toguchida J.
- Toonstra J.
- Trofatter J.A.
- Upadhyaya M.
- Venter D.J.
- Virchow R.
- Viskochil D.
- von Recklinghausen F
- Wallace M.R.
- Wallace M.R.
- Wertelecki W.
- Wishart J.H.
- Wolff R.
- Wolter JR, Gonzales-Sirit
- Wong J.Y.C.
- Xavier E.
- Xu G.
- Young D.F.
- Zanca A.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textMendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
- Author
- Anad F.
- Andersen L.B.
- Anderson M.
- Arai E.
- Augusseau S.
- Ballabio A.
- Ballabio A.
- Bass E.B.
- Bawle E.
- Bernstein R.
- Bitoun P.
- Bodrug S.E.
- Bodrug S.E.
- Bodrug S.E.
- Boyd Y.
- Boyd Y.
- Breuning M.H.
- Bridge J.
- Brown K.W.
- Brueton L.
- Butler M.G.
- Cannizzaro L.A.
- Cassidy S.B.
- Chamberlin J.
- Chandley A.C.
- Chelly J.
- Chumakov I.
- Clayton-Smith J.
- Cohen M.M.
- Collins F.A.
- Collins F.S.
- Cremers F.P.M.
- Crolla J.A.
- Cross I.
- Daniel A.
- Davis L.M.
- de Cytogeneticiens Francais Groupe
- de Cytogeneticiens Francais Groupe
- de Grouchy J
- de Saint-Basile G
- Diaz-Castanos L.R.
- Driscoll D.A.
- Ebensperger C.
- Edwards J.H.
- Ejima Y.
- Ellison K.A.
- Emanuel B.S.
- Fantes J.A.
- Ferguson-Smith M.A.
- Flannery D.B.
- Foote S.
- Frezal J.
- Fryns J.P.
- Fujita H.
- Fukushima Y.
- Funderburk S.J.
- Giacalone J.P.
- Giannotti A.
- Gilgenkrantz S.
- Goldblatt J.
- Gorlin R.J.
- Gorski J.L.
- Greenberg F.
- Greenberg F.
- Gurrieri F.
- Haan E.A.
- Haas O.A.
- Hamabe J.
- Hamabe J.
- Hamers A.
- Happle R.
- Harris A.
- Hatziioannou A.
- Henry I.
- Higgins M.J.
- Hodgson S.V.
- Hodgson S.V.
- Holmquist G.P.
- Hoo J.J.
- Hotta Y.
- Houston C.S.
- Imaizumi K.
- Imaizumi K.
- JCC De Almeida
- Jewett T.
- JF Jr, Fraumeni
- Journel H.
- Kaffe S.
- Kajii T.
- Kaplan J.
- Kapur S.
- Kayes L.M.
- Kean V.M.
- Kelly D.
- Kiss P.
- Kobayashi T.
- Korenberg JR, Rykowski
- Kousseff B.G.
- Kruger G.
- Lacombe D.
- Lamont M.A.
- Ledbetter D.H.
- Lindenbaum R.H.
- Lindgren V.
- Ludecke H.J.
- Luke S.
- Lupski JR, Wise
- Lurie I.W.
- Lyons L.A.
- Ma K.
- MacDermot K.D.
- Maraia R.
- Matsumoto T.
- Mattei M.G.
- McCabe E.R.B.
- Meitinger T.
- Mercer J.F.B.
- Merry D.E.
- Mitchell C.D.
- Monaco A.P.
- Moore J.W.
- Moss C.
- Motegi T.
- Mueller O.T.
- N Tommerup
- Nakagome Y.
- Nakagome Y.
- Naritomi K.
- Naritomi K.
- Nicholls R.D.
- Niikawa N.
- Nisen P.
- Norman A.M.
- Ogle R.F.
- Pediatr J.
- Pembrey M.
- Pendergrass T.W.
- Pettenati M.J.
- Pettigrew A.L.
- Plougastel B.
- Porteous D.J.
- Pueschel S.M.
- Purvis-Smith S.G.
- Qumsiyeh M.B.
- Ray P.N.
- Riccardi V.M.
- Robinson D.
- Robinson D.O.
- Robinson W.P.
- Royer-Pokora B.
- Scambler P.J.
- Scambler P.J.
- Schmidt M.
- Schmidt M.
- Schmidt M.
- Schmidt M.A.
- Schwartz M.
- Sefiani A.
- Sefiani A.
- Shannon R.S.
- Sharland M.
- Simola K.O.J.
- Sinclair A.H.
- Siu V.M.
- Slee J.J.
- Speleman F.
- Stambolian D.
- Steele M.W.
- Therman E.
- Thomas N.S.T.
- Tommerup N.
- Tommerup N.
- Tommerup N.
- Tommerup N.
- Tommerup N.
- Tsukamoto K.
- Tumer Z.
- Turleau C.
- Turleau C.
- Turleau C.
- Turleau C.
- Verellen C.
- Viskochil D.
- Vortkamp A.
- Vortkamp A.
- Vulpe C.
- Wagner K.
- Webb T.
- Weinberg R.A.
- Weissenbach J.
- Wilkie A.O.
- Williams C.A.
- Williamson R.A.
- Wilson D.I.
- Wilson G.N.
- Winsor E.J.T.
- Wyandt H.E.
- Yamamoto Y.
- Yang H.M.
- Young I.D.
- Ziter F.A.
- Zoghbi H.Y.
- Zonana J.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textNeurofibromatosis type 1 & Related Disorders
- Author
- A. Bernards
- A. Broniscer
- A. Carella
- A. Colley
- A. Crèange
- A. Guha
- A. Gupta
- A. Hajra
- A. Horwich
- A. John
- A. Kedar
- A. Kurien
- A. Kurtz
- A. Luca De
- A. Manoli
- A. Martin-Gallardo
- A. Ogawa
- A. Pou Serradell
- A. Richetta
- A. Rubenstein
- A. Sarkozy
- A. Schindeler
- A. Verhest
- A. Zanca
- A. Zatkova
- A. Zvulunov
- A.A. King
- A.D. Gitler
- A.E. Brzowski
- A.E. Winter De
- A.G.L. Corkill
- A.H. Crawford
- A.H. Crawford
- A.H. Crawford
- A.J. Barkovich
- A.J. Cappione
- A.J. Silva
- A.L. Halliday
- A.P. Fitzpatrick
- A.P. Griffiths
- A.S. Ishkanian
- A.T. Meadows
- B. Baujat
- B. Castle
- B. Dasgupta
- B. Dasgupta
- B. Ducatman
- B. Maria
- B. Samuelson
- B. Samuelson
- B.A. Akbarnia
- B.C. Chang
- B.C. Widemann
- B.D. Moore III
- B.G. Kousseeff
- B.L. Wu
- B.R. Korf
- B.R. Korf
- B.R. Korf
- B.S. Chang
- B.T. Allan
- B.Z. Garty
- C. Consoli
- C. Gervanasini
- C. Gilberg
- C. Jacquemin
- C. Kuenzle
- C. Li
- C. Lopez-Correa
- C. Lázaro
- C. Lázaro
- C. Moss
- C. Parazzini
- C. Raffel
- C. Tudisco
- C.A. Chapman
- C.E. Fuller
- C.F. Parsa
- C.H. Donnell Mc
- C.L. Witzleben
- C.M. Johannessen
- C.R. Jamieson
- C.S. Specht
- D. A. Von
- D. Abeliovich
- D. Arun
- D. Babovic-Vuksanovic
- D. Baralle
- D. Carmi
- D. Gutmann
- D. Harber
- D. Jadayel
- D. Kaufmann
- D. Kaufmann
- D. Taboada
- D. Viskochil
- D. Whiteside
- D.A. Ingram
- D.A. Largaespada
- D.A. Marchuk
- D.A. Marchuk
- D.A. Stevenson
- D.A. Stevenson
- D.A. Stevenson
- D.F. Easton
- D.G. Hope
- D.H. Gutman
- D.H. Gutman
- D.I. Rodenhiser
- D.J. Bergin
- D.N. Abuelo
- D.P. DiPaolo
- D.R. Bertola
- D.R.G. Evans
- D.R.G. Evans
- D.W. Dunn
- E. Ars
- E. Ars
- E. Ars
- E. Boltshauser
- E. Caprotti
- E. Czyzyk
- E. Deniz
- E. Hess
- E. Legius
- E. Legius
- E. Serra
- E. Serra
- E. Serra
- E. Serra
- E. Sobata
- E. Yumoto
- E.A. Keen Mc
- E.J. Stay
- E.K. Schorry
- F. Grill
- F. Hecht
- F. Sadun
- F.A. Hochberg
- F.C. Yang
- F.H. Menko
- F.J. Perez-Grueso
- F.J. Rodriguez
- F.M. Enzinger
- F.V. Waldassen
- F.W. Crowe
- G. Bollag
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- G.F. Xu
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- J.L. Finley
- J.M. Berner
- J.M. Boulanger
- J.M. Friedman
- J.M. Friedman
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- K.K. Hiatt
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- K.M. Reilly
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- K.M. Shannon
- K.N. North
- K.S. Vogel
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- M. Clark
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- M. Luijten
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- M. Macaluso
- M. Negoro
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- M. Poyhonen
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- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
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- M. Upadhyaya
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- M.E. Baser
- M.H. Cnossen
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- M.H. Sajid
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- M.J. Eliason
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- M.L. Bajenaru
- M.L. Griebel
- M.M. Labardini
- M.M. Sabah
- M.N. Needle
- M.O. Dorschner
- M.R. Ahmadian
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- National Institutes of Health Consensus Development Conference Statement
- O. Maertens
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- P.E. Gregory
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- R. Cusmai
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- R. Mallmann
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- R.E. Ferner
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- R.E. Friedrich
- R.G. Perrin
- R.H. Hrban
- R.J. Packer
- R.J. Packer
- R.J. Packer
- R.L. Davies
- R.M. Costa
- R.M. Costa
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- S.A. Rasmusen
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- S.A. Sorensen
- S.A. Thomson
- S.D. Colman
- S.J. Hamilton
- S.J. Miller
- S.L. Tow
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Lederman
- S.M. Pierce
- S.M. Pulst
- S.R. Uhlin
- T. Artaza
- T. Illes
- T. Jacks
- T. Kuorilehto
- T. Lehrnebecher
- T. Ogawa
- T. Quattrin
- T. Raedt De
- T. Raedt De
- T. Raedt De
- T. Rosenbaum
- T. Rosser
- T.A. Tomsick
- T.J. Hulsebos
- T.N. Basu
- U. Aldrovandi
- V. Ingordo
- V. Suzuki
- V. Wiest
- V.F. Mautner
- V.M. Park
- V.M. Riccardi
- V.M. Riccardi
- V.M. Riccardi
- W. Tega
- W. Tinschert
- W.B. Lehman
- W.F. Hoyt
- W.G. Tilesius von Tilenau
- W.H. Burgdorf
- W.I. Schievink
- W.R. Salyer
- W.S. Kearse Jr
- X. Yu
- Y. Li
- Y. Li
- Y. Takamiya
- Y. Zhu
- Y.P. Hsueh
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2008
- Field of study
No full text
