8 research outputs found
Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Erythropoietic protoporphyria, heterozygous cystinuria, and reduced peptidase A activity in a patient with 46,XX/46,XX,18q--mosaicism.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
A case of partial trisomy 22 resulting from maternal 11/22 translocation
- Author
- A. Pérez-Castillo
- B.S. Emanuel
- D.A. Welter III
- D.S. Borgaonkar
- E.M. Bühler
- F. Mollica
- G.M. Feldman
- H. Zellweger
- H.H. Punnett
- H.N. Bass
- Hideo Inoue
- Hiroshi Kimoto
- I. Matsui
- J. Cervenka
- J.A. Uchida
- J.A. Uchida
- J.L. Taillemite
- K. Hirschhorn
- K.H. Gustavson
- Kouji Narahara
- L. Iselius
- L.Y.F. Hsu
- M.G. Vianello
- M.H.K. Shokeir
- M.K. Bofinger
- M.L. Begleiter
- M.N. McIntyre
- Motoji Kamoi
- O.S. Alfi
- P. Garlinger
- R.M. Goodman
- S. Lalchev
- Shunsuke Kimura
- T. Kadotani
- V.B. Penchaszadeh
- Y. Nakai
- Yoshifumi Kodama
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.
- Author
- A T Tharapel
- A Bresson J.L.Noir
- Bateman J.B.
- Carnevale A.
- Cassidy S.B.
- Coco R.
- Cousineau A.J.
- E K Pivnick
- Engel E.
- Faust J.
- Felding I.
- Feldman-Lewanda A.
- Frank J.
- Fryns J.P.
- G V Velagaleti
- Glover T.
- Glover T.
- Guc-Scekic M.
- Hausmann C.
- Helmuth R.A.
- Hertz J.M.
- Hyder D.M.
- Jacobsen P.
- JN Klep-De Pater
- JO Van Hemel
- Jones C.
- Jones C.
- Kaffe S.
- Kaneko Y.
- Knight S.
- Larson S.A.
- Laurent C.
- Lee M.L.
- Leonard C.
- Linarelli G.P.
- Lippe B.M.
- M E Smith
- McPherson E.
- Meltzer P.S.
- Miro R.A.
- Monteleone P.L.
- Mulcahy M.T.
- Nancarrow J.
- Neavel C.B.
- Ngynen C.
- O'Hare A.E.
- Obregon M.G.
- Ohno S.
- Parrish J.E.
- Penny L.A.
- R E Tipton
- R S Wilroy
- Richards R.I.
- Rose SR, Manasco
- S R Rose
- Schinzel A.
- Schwartz C.
- Sirota L.
- Stratton R.F.
- Sutherland G.R.
- Taillemite J.L.
- Valente M.
- Voullaire L.E.
- Wakazono A.
- Wardinsky T.D.
- Zabel B.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.
- Author
- Alexander D.S.
- Almeida J.C.C.
- Andrews J.
- Angell R.
- Armandares S.
- Armendares S.
- BaliMek P.
- Barbarino A.
- Barr M.L.
- Bengtsson B.
- Benitez J.
- Berger R.
- Berger R.
- Bernstein R.
- Bigley R.H.
- Bobrow M.
- Bochkov N.P.
- Boczkowski K.
- Book J.A.
- Borgaonkar D.S.
- Borgaonkar D.S.
- Borgaonkar D.S.
- Borgaonkar D.S.
- Borgaonkar D.S.
- Boschetti R.
- Bostock C.J.
- Bridges C.B.
- Brosseau G.E.
- Buchanan P.D.
- Buchanan P.D.
- Buhler E.M.
- Buhler E.M.
- Buhler E.M.
- Buihler E.M.
- Burgoyne P.S.
- Buys C.H.C.M.
- Caspersson T.
- Chaganti R.S.K.
- Chandley A.C.
- Chandley A.C.
- Chandley A.C.
- Chen A.T.
- Christensen K.R.
- Cohen M.M.
- Cohen M.M.
- Conen P.E.
- Conference Paris
- Cooke H.J.
- Curtis D.J.
- Dallapiccola B.
- Davidenkova E.F.
- de Almeida JCC
- de Chieri PR
- de Grouchy J
- de Grouchy J
- de Grouchy J
- de la Chapelle A
- de Sa MC Frias
- den Berghe H Van
- den Berghe H Van
- Desjeux J.F.
- Develing A.J.
- Devictor-Vuillet M.
- Dewhurst C.J.
- Dewhurst C.J.
- Dokumov S.I.
- Donahoe P.K.
- Dosik H.
- Dumars K.W.
- Dumars K.W.
- Dutrillaux B.
- Dutrillaux B.
- Evans H.J.
- F Lo Curto
- Faoris C.
- Fass B.
- Federman D.D.
- Ferenczy A.
- Ferguson-Smith M.A.
- Ferguson-Smith M.A.
- Ferrier P.
- Ferrier P.E.
- Fineman R.M.
- Flannery E.P.
- Fonatsch C.
- Forabosco A.
- Forabosco A.
- Ford C.E.
- Ford C.E.
- Fraccaro M.
- Fraccaro M.
- Fraccaro M.
- Fraccaro M.
- Fraccaro M.
- Francke U.
- Frey R.O.
- Fried K.
- Friedrich U.
- Frund S.
- Fryns J.P.
- Fryns J.P.
- Genest P.
- Genest P.
- Genest P.
- Genest P.
- Genest P.
- Genest P.
- Genest P.
- Genest P.
- Genet Y.Arch
- Gerald P.S.
- German J.
- German J.
- Giannelli F.
- Gilgenkrantz S.
- Giraud F.
- Greenblatt R.B.
- Hahnemann N.
- Hahnemann N.
- Hamerton J.L.
- Hart Z.H.
- Hasen J.
- Hayata I.
- Hayek A.
- Hermier M.
- Higurashi M.
- Hillman L.S.
- Howard-Peebles P.N.
- Howell W.M.
- Hreidarsson A.B.
- Hsu L.Y.F.
- Hsu L.Y.F.
- In Gorlin R.J.
- Isurugi K.
- JA Van Zyl
- Jacobs P.A.
- Jacobs P.A.
- Jacobs P.A.
- Jacobs P.A.
- Jalal S.M.
- Jalbert P.
- JAM Van Wijck
- Johnston A.W.
- Jones H.W.
- Jones H.W.
- Jones K.W.
- Kakati S.
- Kaluzewski B.
- Kaluzewski B.
- Kaosaar M.E.
- Kaosaar M.E.
- Kardon N.B.
- Kardon N.B.
- Karyotype Kjessler B.
- Kato T.
- Kessel E.
- Khodr G.S.
- Khudr G.
- Khudr G.
- Khudr G.
- Khudr G.
- King C.R.
- Kinross J.
- Kjessler B.
- Klevit H.D.
- Klinger H.P.
- Klinger H.P.
- Kobberling J.
- Kohn G.
- Koo G.C.
- Krmpotic E.
- Kunkel L.M.
- Lamy M.
- Langmaid H.
- Laszl6 J.
- Latt S.A.
- Laurent C.
- Laurent C.
- Leisti J.
- Lenz W.
- Levin W.C.
- Lo M.T.
- Lonberg N.C.
- Lorenzo E.M.
- Lucas M.
- Lundsteen C.
- lVA McKusick
- Macintyre M.N.
- Madan K.
- Madan K.
- Madan K.
- Magnelli N.C.
- Mailhes J.B.
- male subfertility. In
- Malkova J.
- Manuel M.
- Mattei J.F.
- Mattei J.F.
- McDonough P.G.
- Mcllree M.E.
- Mdrquez-Monter H.
- Med N.Engl J.
- Meisner L.F.
- Melis G.B.
- Mellman W.J.
- Miller R.C.
- Moreau N.
- Moreira-Filho C.A.
- Morillo-Cucci G.
- Muldal S.
- Muldal S.
- Muller U.
- Nakagome Y.
- Nakagome Y.
- Nakai Y.
- Narahara K.
- Neu R.L.
- Nielsen J.
- Nielsen J.
- Nielsen J.
- Nielsen J.
- Nielsen J.
- Nielsen J.
- Noel B.
- Nuzzo F.
- Ohno S.
- Ohno S.
- Ohno S.
- on karyotype-phenotype Mikkelsen M.Symposium
- Padre-Mendoza T.
- Pajares I.L.
- Park I.J.
- Patten B.M.
- Pennock C.A.
- Pescia G.
- Pfeiffer R.A.
- Pierson M.
- Polani P.E.
- R M Davis
- Rary J.M.
- Rary J.M.
- Rary J.M.
- Reitalu J.
- Reitalu J.
- Retief A.E.
- Richards B.W.
- Robinson J.A.
- Rosenfeld R.G.
- Roubin M.
- Russell A.
- Russell W.L.
- Ruthner U.
- Sarto G.E.
- Scherini A.
- Schmid W.
- Schmid W.
- Scully R.E.
- Siebers J.W.
- Simpson J.L.
- Simpson J.L.
- Simpson J.L.
- Singh R.P.
- Soudek D.
- Spowart G.
- Starkman M.N.
- Steinbach P.
- Stern C.
- Stevenson A.C.
- Stoeckenius M.
- Stolecke H.
- Stoll C.
- Subrt I.
- Summitt R.L.
- Surana R.B.
- Taillemite J.L.
- Taillemite J.L.
- Takayasu H.
- Taylor M.C.
- Telfer M.
- Tiepolo L, Zuffardi 0
- Tishler P.V.
- Trowell H.R.
- Tsenghi C.
- Tuncbilek E.
- Turleau C.
- Turleau C.
- Turleau C.
- Turpin R.
- Turpin R.
- Turpin R.
- Vague J.
- Vaharu T.
- van den Berghe H
- Verjaal M.
- Verma R.S.
- Verma R.S.
- Vianello M.G.
- Vignetti P.
- Vignetti P.
- Wachtel S.S.
- Wachtel S.S.
- Wachtel S.S.
- Wagenbichler V.P.
- Wahlstrom J.
- Warburton D.
- Warter S.
- Welshons W.J.
- White M.J.D.
- Wilson M.G.
- Wilson M.G.
- Winters A.J.
- Wisniewski L.
- WM Court Brown
- WM Court Brown
- Yanagisawa S.
- Ying K.L.
- Ying K.L.
- Yunis E.
- Yunis E.
- Yunis J.J.
- Zenzes M.T.
- Zenzes M.T.
- Zeuthen E.
- Zeuthen E.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
The aetiology of the cat eye syndrome reconsidered.
- Author
- (Paris Ann Genet
- 0 Curcio
- 0 Haab
- Al Taylor
- Allderdice P.W.
- Aurias A.
- Ayraud N.
- Bass H.N.
- Beyer P.
- Biles A.R.
- Bloom G.E.
- Bofinger M.K.
- Buhler E.M.
- Bull Eur Soc Hum Genet
- Cervenka J.
- Coco R.
- Cory CC Jamison DL
- Crandall B.F.
- Darby C.W.
- de Grouchy J
- Emanuel B.S.
- Escobar J.I.
- Farah L.M.S.
- Franke U.
- Franklin R.C.
- Freedom R.M.
- Fried K.
- Friedrich U.
- Fryns J.A.
- Fuhrmann W.
- G Guanti
- Garlinger P.
- Gerald P.S.
- Gerald P.S.
- Ginsberg J.
- Giraud F.
- Giraud F.
- Grace E.
- Gustavson K.H.
- Hirschhorn K.
- Hoehn H.
- Hsu L.Y.F.
- Iselius L.
- Ishmael J.
- Jacobsen P.
- Jacobsen P.
- James P.M.L.
- Johnson L.D.
- Jotterand M.
- KDr1ug-eeirneE selWtientekocwhsrkoimosR
- Kessel E.
- Kistenmacher M.L.
- Krmpotik E.
- Kunze J.
- Kurokyi Y.
- Laurent C.
- Laurent C.
- Leisti J.
- Lejeune J.
- Lewis B.V.
- Maclntyre M.N.
- Maeda T.
- Mameli M.
- McClintock B.
- McClintock B.
- McDermott A.
- Mutchinick 0 Ruz L, Jimenez R
- Neu R.L.
- Niebuhr E.
- Nishi Y.
- Noel B.
- Noel B.
- Noel B.
- Noel B.
- Petersen R.A.
- Petit P.
- Pfeiffer R.A.
- Pierson M.
- PR De Chieri
- Punnett H.H.
- Quan L.
- Quan L.
- Reisman L.E.
- Rethore M.O.
- Rosenkrantz W.
- Rott H.D.
- Say B.
- Schachenmann G.
- Schinzel A.
- Schinzel A.
- Schmid W.
- Schwanitz G.
- Schwanitz G.
- Schwinger E.
- Sebestyen J.
- Sparkes R.S.
- Stalder G.R.
- Stoll C.
- Taft P.D.
- Taillemite J.L.
- Talvik T.
- Taysi K.
- Temtamy S.A.
- Thomas C.
- Thompson H.
- Tolksdorf M.
- Toomey K.E.
- Townes P.L.
- Tusques J.
- Warkany J.
- Weber F.M.
- Weleber R.G.
- Wilroy R.S.
- Wilson M.G.
- Wright Y.M.
- Yanagisawa S.
- Yunis J.J.
- Zackai E.
- Zellweger H.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Chromosomal Anomalies and the Eye
- Author
- A. Bonfante
- A. Carnevale
- A. Chapelle de la
- A. Delicado
- A. Forabosco
- A. Forabosco
- A. Fujimoto
- A. Fujimoto
- A. Fujimoto
- A. Hernandez
- A. Kleczkowska
- A. McDermott
- A. Muelenaere de
- A. Muelenaere de
- A. Schinzel
- A. Schinzel
- A. Schinzel
- A. Schinzel
- A. Schinzel
- A. Schinzel
- A. Weiss
- A. Zatterale
- A.A. Bialasiewicz
- A.C. Berry
- A.C.M. Smith
- A.C.M. Smith
- A.E. Chudley
- A.E. O’Hare
- A.G.W. Hunter
- A.H.J.T. Brocker-Vriends
- A.J. Cousineau
- A.J. Dickinson
- A.J. Essen van
- A.L. Pettigrew
- A.M. Mansour
- A.M.V. Duncan
- A.M.V. Duncan
- A.O. Martin
- A.P. Ferry
- A.R. Caputo
- B. Boilly-Dartigalongue
- B. Dallapiccola
- B. Dutrillaux
- B. Martin-Pont
- B.M. Lippe
- B.S. Smith
- C. Fear
- C. Junien
- C. Kozma
- C. Turleau
- C. Turleau
- C. Turleau
- C. Turleau
- C. Turleau
- C. Turleau
- C. Turleau
- C. Turleau
- C. Turleau
- C. Turleau
- C. Turleau
- C.A. Stratakis
- C.B. Mankinen
- C.E. Clark
- C.E. Clark
- C.G. Keith
- C.G. Palmer
- C.G. Palmer
- C.H. Gonzalez
- C.H. Gonzalez
- C.L. Elstner
- C.M. Antle
- C.M. Moore
- C.N. Onufer
- C.P. Kaminker
- C.S. Houston
- C.S. Reid
- C.W. Yu
- D. Chitayat
- D. Garcia-Cruz
- D. Ioan
- D. Kumar
- D. Lockwood
- D. Salazar
- D.A.L. Ledbetter
- D.D. Johnson
- D.G. Cogan
- D.R. Romain
- D.R. Romain
- E. Blennow
- E. Bonioli
- E. Cotlier
- E. Ferrante
- E. Grace
- E. Lenzini
- E. McPherson
- E. Niebuhr
- E. Niebuhr
- E. Orye
- E. Schwinger
- E. Yunis
- E. Yunis
- E. Yunis
- E.A. Wulfsberg
- E.A. Wulfsberg
- E.C. Ford
- E.G. Navarro
- E.I. Traboulsi
- E.R. Plunkett
- E.S. Sachs
- F. Anad
- F. Greenberg
- F. Greenberg
- F. Greig
- F. Rivas
- F. Salamanca-Gomez
- F. Serville
- F.D. Koole
- F.D. Verbraak
- F.J. Rutten
- F.S. Yen
- G. Anneren
- G. Antonakou
- G. Evans-Jones
- G. Gimelli
- G. Palka
- G. Schachenmann
- G. Schwanitz
- G. Schwanitz
- G.A. Chrousos
- G.M. Feldman
- G.N. Wilson
- G.N. Wilson
- G.N. Wilson
- G.R. Bunin
- G.R. Sutherland
- G.S. Khodr
- H. Chen
- H. Chen
- H. Fujita
- H. Journel
- H. Levin
- H. Nistrup Madsen
- H. Pihko
- H. Rivera
- H. Rivera
- H. Rivera
- H. Rivera
- H. Rivera
- H.C. Soltan
- H.E. McDermid
- H.E. Wyandt
- H.F. France de
- H.F. France de
- H.F. Klinefelter Jr
- H.H. Turner
- H.J. Kuchle
- H.N. Bass
- I. Felding
- I. Kondo
- I. Levy
- I. Ligutic
- I. Subrt
- I. Uchida
- I. Voiculescu
- I.W. Lurie
- J. Crane
- J. Deroover
- J. Francois
- J. Ginsberg
- J. Ginsberg
- J. Ginsberg
- J. Ginsburg
- J. Grouchy de
- J. Kunze
- J. Lejeune
- J. Lejeune
- J. Nielsen
- J. Nielsen
- J. Peter
- J. Peters
- J. Schwartz
- J. Sherard
- J. Walknowska
- J.A. Milot
- J.A. Mitchell
- J.A. Reiss
- J.A. Reiss
- J.B. Bateman
- J.C. Allen
- J.C. Ramer
- J.D. Kivlin
- J.D. Reynolds
- J.F. Atkin
- J.F. Mattei
- J.G. Heathcote
- J.H. DiLiberti
- J.H. Edwards
- J.H. Tjio
- J.I. Escobar
- J.J. Hoo
- J.J. Hoo
- J.J. Yunis
- J.J. Yunis
- J.J. Yunis
- J.K. Cowell
- J.L. Taillemite
- J.L. Watt
- J.L. Wiggs
- J.L.H. Down
- J.M. Cantu
- J.M. Hertz
- J.M. Klep-de Pater
- J.M. Milunsky
- J.N. Peeden
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Fryns
- J.P. Park
- J.S. Schlessel
- J.T. Martsolf
- J.W. Farrell
- K. Fried
- K. Hatanaka
- K. Miller
- K. Narahara
- K. Narahara
- K. Patau
- K. Stromland
- K. Taysi
- K. Taysi
- K. Taysi
- K. Wisniewski
- K.H. Gustavson
- K.I. Ohba
- K.R. Kini
- L. Burd
- L. Decourt
- L. Mehta
- L. Rutzler
- L. Wilkins
- L. Wilson
- L.A. Cannizzaro
- L.E. McMorrow
- L.E. McMorrow
- L.E. Wilkins
- L.I. Al-Gazali
- L.M. Wilcox
- L.Y.F. Hsu
- M. Alvarado
- M. Bartsch-Sandoff
- M. Collier
- M. Feingold
- M. Frangoulis
- M. Frydman
- M. Kuchle
- M. Lange
- M. Moller
- M. Prieur
- M. Ray
- M. Seabright
- M. Shohat
- M. Warburg
- M. Waziri
- M. Yanoff
- M.-O. Rethore
- M.-O. Rethore
- M.A. Donlan
- M.A. Telfer
- M.A. Wolkstein
- M.B. Jenkins
- M.B. Shapiro
- M.C. Alvarez-Arratia
- M.C. Pellissier
- M.G. Butler
- M.G. Wilson
- M.G. Wilson
- M.H. Beall
- M.H. Lipson
- M.H.K. Shokeir
- M.J. Corney
- M.J. Gregoire
- M.M. Cohen
- M.M. McCorquodale
- M.M. Rodrigues
- M.S. Watson
- N. Bown
- N. Niikawa
- N.F. Naccache
- N.J. Leschot
- N.J. Leschot
- N.J. Martin
- N.K. Brondum
- N.L. Golden
- O. Alfi
- O. Raoul
- O. Sanchez
- O.J. Hood
- O.P. Heimonen
- P. Balestrazzi
- P. Balestrazzi
- P. Balestrazzi
- P. Calva
- P. Chieri
- P. Meinecke
- P. Schnatterly
- P. Steinbach
- P. Vachvanichsanong
- P.A. Jacobs
- P.A. Walravens
- P.E. Polani
- P.J. Howard
- P.L. Monteleone
- P.L. Townes
- P.R. Scarbrough
- P.W. Allderdice
- P.W. Allderdice
- P.W. Allderdice
- R. Carter
- R. Koenig
- R. Sandoval
- R. Schmickel
- R. Schmidt
- R. Stallard
- R.A. Catalano
- R.A. Helmuth
- R.A. Pfeiffer
- R.A. Pfeiffer
- R.A. Pfeiffer
- R.A. Pfeiffer
- R.A. Stathacopoulos
- R.B. O’Grady
- R.C. Juberg
- R.C. Lewandowski Jr
- R.C. Lewandowski Jr
- R.D. Jefferson
- R.D. Smart
- R.D. Wegner
- R.E. Falk
- R.E. Magenis
- R.E. Tipton
- R.F. Stratton
- R.H. Lindenbaum
- R.I. Kelley
- R.J. Gorlin
- R.J. Gorlin
- R.J. Strobel
- R.J.M. Gardner
- R.M. McNeal
- R.O. Howard
- R.O. Howard
- R.S. Bowser
- R.S. Sparkes
- R.S. Sparkes
- R.S. Sparkes
- R.S. Young
- R.S. Young
- R.S. Young
- R.S. Young
- S. Armendares
- S. Daniele
- S. Kroyer
- S. Mantagos
- S. Suciu
- S.A. Al-Awadi
- S.A. Tharapel
- S.D. Shapiro
- S.F. Pan
- S.H. Friend
- S.H. Roberts
- S.J. Charles
- S.J. Funderburk
- S.J. Funderburk
- S.J. Hreidarsson
- S.J. Moedjono
- S.M. Pueschel
- S.R. Patil
- S.R. Patil
- T. Caspersson
- T. Williams
- T.W.J. Hustinx
- U. Franke
- U. Friedrich
- U. Mayer
- U. Wolf
- U.M. Mayer
- V. Greger
- V. Hurgoiu
- V.L. Zurcher
- V.M. Riccardi
- V.M. Riccardi
- V.M. Riccardi
- V.P. Johnson
- W. Blackburn
- W. Vogel
- W. Vogel
- W. Wertelecki
- W.A. Fawcett
- W.E. Nance
- W.F. Benedict
- W.H. Lee
- W.K. Cavenee
- W.R. Breg
- W.W. Nichols
- Y. Nakamura
- Y. Yamamoto
- Y. Yamamoto
- Y.K. Fung
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2006
- Field of study