9 research outputs found
Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies.
- Author
- Buetow K.H.
- Chenevix-Trench G.
- Chenevix-Trench G.
- Chung C.S.
- Cowchock S.
- DC Van Dyke
- Donnai D.
- Farrall M.
- Farrall M.
- Ferguson M.W.J.
- G M Vintiner
- Hascall V.C.
- Hecht J.T.
- K K Lo
- Kormann-Bortolotto M.H.
- Marazita M.L.
- Mitchell L.E.
- Murray J.C.
- Perreau J.
- Polymeropoulos M.H.
- R M Winter
- S E Holder
- S Malcolm
- Vintiner G.M.
- Vintiner G.M.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Multiple origins of X chromosome tetrasomy.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Exclusion of retinoic acid receptor and a cartilage matrix protein in non-syndromic CL(P) families.
- Author
- Publication venue
- Publication date
- 01/01/1995
- Field of study
A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Complex segregation analysis of nonsyndromic cleft lip/palate in a Chilean population
- Author
- Ardinger H.H.
- Bixler D.
- Blanco R.
- Carinci F.
- Carter C.O.
- Carter C.O.
- Chenevix-Trench G.
- Chenevix-Trench G.
- Chung C.S.
- Clementi M.
- Davies A.
- De Paepe A.
- Demenais F.
- Farral M.
- Fraser F.C.
- Hecht J.
- Hecht J.T.
- Hecht J.T.
- Hernán Carreño
- Hernán Palomino
- Holder S.E.
- Hu D.N.
- Jara L.
- Koguchi H.
- Lalouel J.M.
- Lalouel J.M.
- Lilian Jara
- M.A. Muñoz
- MacLean C.J.
- Marazita M.L.
- Marazita M.L.
- Mauricio Arcos-Burgos
- Melnick M.
- Melnick M.
- Mitchell L.
- Mitchell L.
- Morton N.E.
- Mónica Paredes
- Nemana L.J.
- Palomino H.M.
- Rafael Blanco
- Ray A.K.
- Rothhammer F.
- Sassani R.
- Simpson S.P.
- Stein J.
- Stoll C.
- Temple K.
- Valenzuela C.
- Valenzuela C.
- Valenzuela C.
- Victor Obreque
- Vintiner G.M.
- Vintiner G.M.
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
The major locus for multifactorial nonsyndromic cleft lip maps to mouse Chromosome 11
- Author
- A.F. Candia
- A.K. Ray
- A.M. Buchberg
- C.K. Jiang
- D. Shaw
- D.G. Trasler
- D.G. Trasler
- D.J. Morris
- D.M. Juriloff
- D.M. Juriloff
- D.M. Juriloff
- D.M. Juriloff
- D.M. Juriloff
- D.M. Juriloff
- D.M. Juriloff
- D.M. Juriloff
- E.L. Green
- F.C. Fraser
- F.G. Biddle
- G. Chenevix-Trench
- G. Millicovsky
- G.B. Mann
- G.M. Vintiner
- G.M. Vintiner
- H. Kalter
- H. Roelink
- H.H. Ardinger
- I.J. Karolyi
- J. Karolyi
- J. Lohler
- J. Sambrook
- J. Staats
- J.C. Bear
- J.G. Davidson
- J.H. Nadeau
- J.T. Hecht
- J.T. Hecht
- K.-Y. Wang
- L. Flaherty
- L.E. Mitchell
- L.J. Nemana
- M. Farrall
- M. Farrall
- M. Festing
- M. Melnick
- M.L. Marazita
- M.W. Thompson
- N. Osumi-Yamashita
- N.C. Luetteke
- R. Sassani
- S. Bornstein
- S. Raffioni
- S.C. Reed
- S.E. Holder
- T. Lufkin
- V.M. Diewert
- W.F. Dietrich
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.
- Author
- Ahmad N.N.
- Ahmad N.N.
- Ahmad N.N.
- Blair N.P.
- Bonaventure J.
- Brown D.M.
- Brown D.M.
- Brown D.M.
- Brunner H.G.
- D M McDonald-McGinn
- E H Zackai
- Gorlin R.J.
- Haliassos A.
- Knowlton R.G.
- Munro I.R.
- N N Ahmad
- Opitz J.M.
- P Dixon
- Ritvaniemi P.
- Sanger F.
- Shprintzen R.J.
- Snead M.P.
- Stickler G.B.
- Vikkula M.
- Vintiner G.M.
- W S Tasman
- Williams C.J.
- Wilson G.N.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Connective Tissue, Skin, and Bone Disorders
- Author
- A. Feinberg
- A. Franceschetti
- A. Guttierez-Diaz
- A. Harris
- A. Iqbal
- A. Paepe De
- A. Sefiani
- A. Sefiani
- A. Spallone
- A. Spallone
- A. Vogel
- A. Winterpracht
- A.A. Bergen
- A.A.B. Bergen
- A.B. Marfan
- A.D. Jensen
- A.D. Ormerod
- A.E. Fryer
- A.J. Rainbow
- A.K. Bahn
- A.M. Burian
- A.M. Stevens
- A.R. Lehmann
- A.R. Lehmann
- A.U. Uitto
- B. Albrectsen
- B. Bloch
- B. Jay
- B. Jay
- B. Katz
- B. Mevorah
- B. Struk
- B.A. Skinner
- B.G. Kousseff
- B.N. LaDu
- B.R. Migeon
- B.R. Rollnick
- C. Boileau
- C. Hunermann
- C. North
- C. Pries
- C. Teekhasaenee
- C.A. Francomano
- C.A. Francomano
- C.C. Chan
- C.G. Keith
- C.G. Summers
- C.J.R. Curry
- C.L. Maslen
- C.M. Seery
- C.S. Foster
- C.S. Foster
- D. Bick
- D. Cullison
- D. Magid
- D.A. Newsome
- D.B. Dorp van
- D.B. Moyer
- D.D. Eddy
- D.E. Barton
- D.E. Gaasterland
- D.H. Gutmann
- D.I. Hoar
- D.J. Wilkin
- D.L. Marsalese
- D.L. Viljoen
- D.M. Weintraub
- D.O. Sillence
- D.O. Sillence
- D.S. Hull
- D.W. Hollister
- D.W. Sherer
- E. Conradi
- E. Fischer
- E. Friedman
- E. Mayatepek
- E. Rosen
- E. Tahvanainen
- E.A. Cockayne
- E.A. Cockayne
- E.A. DeWeerd-Kastelein
- E.D. Riedner
- E.I. Traboulsi
- E.I. Traboulsi
- E.I. Traboulsi
- E.I. Traboulsi
- E.I. Traboulsi
- E.I. Traboulsi
- E.S.O. Rodini
- E.W. Jones
- F. Hermansky
- F. Otsuka
- F. Ringpfeil
- F.D. Gillespie
- F.E. O’Donnell Jr
- F.E. O’Donnell Jr
- F.E. O’Donnell Jr
- F.M. Pope
- F.M. Pope
- F.M. Pope
- G. Anneren
- G. Collod
- G. Dvorak-Theobald
- G. Meyer-Schwikerath
- G. Weill
- G.B. Stickler
- G.B. Stickler
- G.F. Judisch
- G.F. Judisch
- G.M. Vintiner
- H. Beighton
- H. El-Hefnawi
- H. Giller
- H. Manzke
- H. Wagner
- H.C. Dietz
- H.C. Dietz
- H.E. Cross
- H.E. Sisk
- H.M. Lambert
- H.M. Wheatley
- H.M.M. Mendez
- H.S. Sugar
- H.S. Sugar
- H.S.A. Heymans
- H.S.A. Heymans
- H.W. Kloepfer
- I. Alfonso
- I. Hausser
- I.H. Maumenee
- I.H. Maumenee
- I.H. Maumenee
- I.H. Maumenee
- I.K. Temple
- J. Dudgeon
- J. François
- J. François
- J. Freedman
- J. Hermann
- J. Rahi
- J. Zlotogora
- J.A. Cameron
- J.A. Crolla
- J.B. Ruben
- J.C. Carey
- J.C. Meyer
- J.D. Brodrick
- J.D. Holden
- J.D. Morgan
- J.G. Clarkson
- J.G. Wachtel
- J.G. White
- J.H. Robbins
- J.J. Dutton
- J.L. Gorski
- J.L. Murdoch
- J.M. Fernandez-Canon
- J.M. Opitz
- J.P. Fryns
- J.P. Kraus
- J.S. McGavic
- J.W. Spranger
- J.W.E. Oorthuys
- K. Kainulainen
- K. Resnick
- K. Shimizu
- K. Tanaka
- K. Tse
- K. Tucker
- K.H. Kraemer
- K.H. Kraemer
- K.H. Kraemer
- K.H. Neldner
- K.M. Wright
- L. Key
- L.B. Giebel
- L.B. Holmes
- L.E. Zimmerman
- L.J. Russell
- L.J. Shapiro
- L.J. Sheffield
- L.J. Sheffield
- L.J. Shemen
- L.R. Seguin
- L.S. Levin
- L.Y. Sakai
- M. Fara
- M. Kadrnka-Lovrencic
- M. Khalil
- M. Lebwohl
- M. Ota
- M. Preus
- M. Secretan
- M. Warburg
- M. Willi
- M.A. Gruber
- M.A. Patton
- M.B. Sulzberger
- M.C. Silengo
- M.C. Silengo
- M.F. Goldberg
- M.G. Lebwoh
- M.I. Kaiser-Kupfer
- M.J. Glesby
- M.L. McDermott
- M.M. Cohen
- M.P. Snead
- M.S. Macsai
- M.S. Ramsey
- M.S. Ramsey
- M.S. Ramsey
- N. Braverman
- N. Braverman
- N. Freire-Maia
- N. Izquierdo
- N. Izquierdo
- N.A. Nik
- O. Dabbagh
- O. Marchesani
- O. Saux Le
- O.M. Rennert
- P. Balestrazzi
- P. Beighton
- P. Beighton
- P. Beighton
- P. Bracken
- P. Ferre
- P. Tsipouras
- P.E. Kinnear
- P.F. Coccia
- P.H. Byers
- P.H. Byers
- P.H. Cooper
- P.J. Connor
- P.M. Royce
- P.N. Farnsworth
- P.S. Levin
- R. Hahnel
- R. Happle
- R. Happle
- R. Norio
- R. Norio
- R.A. Allen
- R.A. Allen
- R.A. Bellows
- R.A. Catalano
- R.A. Catalano
- R.A. King
- R.A. King
- R.A. Rudiger
- R.B. Lowry
- R.C. Claxton
- R.C. Feuerstein
- R.C. Sanders
- R.C. Watzke
- R.D. Holmes
- R.E. Levine
- R.E. Pyeritz
- R.E. Pyeritz
- R.F. Mueller
- R.G. Cadle
- R.G. Carney
- R.G. Carney Jr.
- R.J. Gorlin
- R.J. Gorlin
- R.J. Wenstrup
- R.J.A. Wanders
- R.M. Goodman
- R.M. Liberfarb
- R.P. Morse
- R.S. Wells
- R.S. Wells
- R.W. Goltz
- R.W. Goltz
- R.W. Goltz
- RE Pyeritz
- S. Gilgenkrantz
- S. Huang
- S. Jalali
- S. Mir
- S. Ohdo
- S. Rovin
- S.-T. Lee
- S.G. Kahler
- S.H. Mudd
- S.L. Mirhosseini
- S.P.B. Percival
- S.S. Roper
- S.W. Hyams
- T. Krupin
- T. Sjogren
- T. Sonada
- T. Toni De
- T.B. Fitzpatrick
- T.E. Collins
- T.E. Sanders
- The International Incontinentia Pigmenti Consortium.
- U. Pedersen
- U.C. Drager
- V.A. McKusick
- V.L. Gott
- W. Cadera
- W. Coles
- W. Riggs Jr
- W.A. Brailey
- W.C. Lambert
- W.G. Pearce
- W.G. Pearce
- W.H. Burgdorf
- W.H. Knobloch
- W.M. Roberts
- W.S. Sly
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2006
- Field of study