Tools

LEADER 05459cam 2200469Ia 4500

005 20141212020215.0;

008 040226s2005 njua b 001 0 eng ;

010 a| 2004004693;

020 a| 0471308706 :c| $132.00;

035 a| (Sirsi) H1031200;

035 a| (OCoLC)54537905;

049 a| NEHH;

245 00 a| Management of genetic syndromes /c| edited by Suzanne B. Cassidy, Judith E. Allanson.;

250 a| 2nd ed.;

300 a| xvii, 695 pages :b| illustrations ;c| 29 cm;

336 a| text2| rdacontent;

337 a| unmediated2| rdamedia;

338 a| volume2| rdacarrier;

504 a| Includes bibliographical references and index.;

505 0 a| Prader-Willi syndrome / Suzanne B. Cassidy and Shawn E. McCandless -- Proteus syndrome / Leslie G. Biesecker -- Rett syndrome / Eric E. Smeets and Connie T.R.M. Schrander-Stumpel -- Robin sequence / Robert J. Shprintzen -- Rubinstein-Taybi syndrome / Raoul C.M. Hennekam -- Russell-Silver syndrome / Howard M. Saal -- Smith-Lemli-Opitz syndrome / Christopher Cunniff and Theresa A. Grebe -- Smith-Magenis syndrome / Ann C.M. Smith and Andrea Gropman -- Sotos syndrome / Trevor R.P. Cole -- Stickler syndrome / Clair Francomano, Douglas J. Wilkin and Ruth M. Liberfarb --;

505 0 a| Treacher Collins syndrome / Marilyn C. Jones -- Trisomy 18 and 13 syndromes / John C. Carey -- Tuberous sclerosis / John R.W. Yates -- Turner syndrome / Virginia P. Sybert -- VATER association / Bryan D. Hall -- Velo-Cardio-facial syndrome / Robert J. Shprintzen -- Von Hippel-Lindau syndrome / R. Neil Schimke and Debra L. Collins -- WAGR syndrome / Carol L. Clericuzio -- Williams syndrome / Colleen A. Morris -- Wolf-Hirschhorn (4p-) syndrome / Agatino Battaglia.;

505 0 a| Aarskog syndrome / Roger E. Stevenson -- Achondroplasia / Richard M. Pauli -- Alagille syndrome / Binita M. Kamath and Ian Krantz -- Albinism / Richard A. King and C. Gail Summers -- Angelman syndrome / Charles A. Williams -- Arthrogryposis / Judith G. Hall -- ATR-X / Richard J. Gibbons -- Bardet-Biedl syndrome / Anne M. Slavotinek -- Beckwith-Wiedemann syndrome / Rosanna Weksberg and Cheryl Shuman -- CHARGE association / Christine A. Oley -- Coffin-Lowry syndrome / Alasdair G.W. Hunter -- Cornelia de Lange syndrome / David E. Fitzpatrick and Antonie D. Kline -- Costello syndrome / Angela E. Lin, Karen W. Gripp and Bronwyn Kerr --;

505 0 a| Craniosynostosis / Karen W. Gripp and Elaine H. Zackai -- Denys-Drash syndrome / Carol L. Clericuzio -- Down syndrome / Alasdair G.W. Hunter -- Ehlers-Danlos syndrome / Richard J. Wenstrup and Leah B. Hoechstetter -- Fetal alcohol syndrome / Albert E. Chudley and Sally E. Longstaffe -- Fetal anticonvulsants / Renata C. Gallagher, Kerry Kingham and H. Eugene Hoyme -- Fragile X syndrome / Randi J. Hagerman -- Gorlin syndrome (nevoid basal cell carcinoma syndrome) / Peter Farndon -- Hereditary haemorrhagic telangiectasia / Mary E.M. Porteous -- Holoprosencephaly / Andrea L. Gropman and Maximilian Muenke --;

505 0 a| Incontinetia pigmenti / Dian Donnai -- Kabuki syndrome / Louanne Hudgins -- Klinefelter syndrome / Joe Leigh Simpson ... [et al.] -- Marfan syndrome / Iris Schrijver, Deborah M. Alcorn and Uta Francke -- Myotonic dystrophy / Christine E.M. deDie Smulders, Frans G.I. Jennekens and Chris J. H"weler -- Neurofibromatosis type 1 / David Viskochil -- Noonan syndrome / Judith E. Allanson -- Oculo-auriculo-vertebral spectrum / Robert J. Gorlin -- Osteogenesis imperfecta / Joan C, Marin, Anne Letocha and Edith J. Chernoff -- Pallister-Hall and Greig cephalopolysyndactyly syndrome / Leslie G. Biesecker --;

505 0 a| Prader-Willi syndrome / Suzanne B. Cassidy -- Proteus syndrome / Leslie G. Biesecker -- Rett syndrome / Eric E. Smeets and Connie T.R.M. Schrander-Stumpel -- Robin sequence / Robert J. Shprintzen -- Rubinstein-Taybi syndrome / Raoul C.M. Hennekam -- Russell-Silver syndrome / Howard M. Saal -- Smith-Lemli-Opitz syndrome / Christopher Cunniff and Theresa A. Grebe -- Smith-Magenis syndrome / Ann C.M. Smith -- Sotos syndrome / Trevor R.P. Cole -- Stickler syndrome / Clair Francomano, Douglas J. Wilkin and Ruth M. Liberfarb --;

505 0 a| Terminal 22q- / Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers -- Treacher-Collins syndrome / Marilyn C. Jones -- Trisomy 13 and 18 syndromes / John C. Carey -- Tuberous sclerosis / John R.W. Yates -- Turner syndrome / Virginia P. Sybert -- VATER syndrome / Bryan D. Hall -- Velo-Cario-facial syndrome / Robert J. Shprintzen -- Von Hippel Lindau syndrome / R. Neil Schimke and Debra L. Collins -- WAGR syndrome / Carol L. Clericuzio -- Williams syndrome / Colleen A. Morris -- Wolf-Hirschhorn / Agatino Battaglia.;

650 0 a| Genetic disorders.=| ^A311977;

650 12 a| Genetic Diseases, Inbornx| diagnosis.=| ^A936431;

650 22 a| Abnormalities, Multiplex| diagnosis.=| ^A924320;

650 22 a| Abnormalities, Multiplex| therapy.=| ^A935009;

650 22 a| Genetic Diseases, Inbornx| therapy.=| ^A937441;

700 1 a| Cassidy, Suzanne B.=| ^A935010;

700 1 a| Allanson, Judith E.=| ^A935011;

994 a| C0b| NEH;

919 a| BOOK;

959 a| 1031200;

096 a| QZ 50 M266 2005;

596 a| 4;

998 a| 1566897;

999 a| QZ 50 M266 2005w| NLMc| 1i| 31740007225380d| 3/28/2016e| 2/28/2016f| 2/7/2011g| 2l| HSLBKm| HSLn| 12p| $132.00q| 2r| Ys| Yt| HBKu| 2/3/2005x| BOOKz| HSTACKSo| .STAFF. 0;

Management of genetic syndromes / edited by Suzanne B. Cassidy, Judith E. Allanson.

Other author	Cassidy, Suzanne B.
Other author	Allanson, Judith E.
Format	Book
Edition	2nd ed.
Publication Info	Hoboken, N.J. : Wiley-Liss, ©2005.
Description	xvii, 695 pages : illustrations ; 29 cm
Subjects	Genetic disorders. Genetic Diseases, Inborn--diagnosis. Abnormalities, Multiple--diagnosis. Abnormalities, Multiple--therapy. Genetic Diseases, Inborn--therapy.

Contents	Prader-Willi syndrome / Suzanne B. Cassidy and Shawn E. McCandless -- Proteus syndrome / Leslie G. Biesecker -- Rett syndrome / Eric E. Smeets and Connie T.R.M. Schrander-Stumpel -- Robin sequence / Robert J. Shprintzen -- Rubinstein-Taybi syndrome / Raoul C.M. Hennekam -- Russell-Silver syndrome / Howard M. Saal -- Smith-Lemli-Opitz syndrome / Christopher Cunniff and Theresa A. Grebe -- Smith-Magenis syndrome / Ann C.M. Smith and Andrea Gropman -- Sotos syndrome / Trevor R.P. Cole -- Stickler syndrome / Clair Francomano, Douglas J. Wilkin and Ruth M. Liberfarb --
Contents	Treacher Collins syndrome / Marilyn C. Jones -- Trisomy 18 and 13 syndromes / John C. Carey -- Tuberous sclerosis / John R.W. Yates -- Turner syndrome / Virginia P. Sybert -- VATER association / Bryan D. Hall -- Velo-Cardio-facial syndrome / Robert J. Shprintzen -- Von Hippel-Lindau syndrome / R. Neil Schimke and Debra L. Collins -- WAGR syndrome / Carol L. Clericuzio -- Williams syndrome / Colleen A. Morris -- Wolf-Hirschhorn (4p-) syndrome / Agatino Battaglia.
Contents	Aarskog syndrome / Roger E. Stevenson -- Achondroplasia / Richard M. Pauli -- Alagille syndrome / Binita M. Kamath and Ian Krantz -- Albinism / Richard A. King and C. Gail Summers -- Angelman syndrome / Charles A. Williams -- Arthrogryposis / Judith G. Hall -- ATR-X / Richard J. Gibbons -- Bardet-Biedl syndrome / Anne M. Slavotinek -- Beckwith-Wiedemann syndrome / Rosanna Weksberg and Cheryl Shuman -- CHARGE association / Christine A. Oley -- Coffin-Lowry syndrome / Alasdair G.W. Hunter -- Cornelia de Lange syndrome / David E. Fitzpatrick and Antonie D. Kline -- Costello syndrome / Angela E. Lin, Karen W. Gripp and Bronwyn Kerr --
Contents	Craniosynostosis / Karen W. Gripp and Elaine H. Zackai -- Denys-Drash syndrome / Carol L. Clericuzio -- Down syndrome / Alasdair G.W. Hunter -- Ehlers-Danlos syndrome / Richard J. Wenstrup and Leah B. Hoechstetter -- Fetal alcohol syndrome / Albert E. Chudley and Sally E. Longstaffe -- Fetal anticonvulsants / Renata C. Gallagher, Kerry Kingham and H. Eugene Hoyme -- Fragile X syndrome / Randi J. Hagerman -- Gorlin syndrome (nevoid basal cell carcinoma syndrome) / Peter Farndon -- Hereditary haemorrhagic telangiectasia / Mary E.M. Porteous -- Holoprosencephaly / Andrea L. Gropman and Maximilian Muenke --
Contents	Incontinetia pigmenti / Dian Donnai -- Kabuki syndrome / Louanne Hudgins -- Klinefelter syndrome / Joe Leigh Simpson ... [et al.] -- Marfan syndrome / Iris Schrijver, Deborah M. Alcorn and Uta Francke -- Myotonic dystrophy / Christine E.M. deDie Smulders, Frans G.I. Jennekens and Chris J. H"weler -- Neurofibromatosis type 1 / David Viskochil -- Noonan syndrome / Judith E. Allanson -- Oculo-auriculo-vertebral spectrum / Robert J. Gorlin -- Osteogenesis imperfecta / Joan C, Marin, Anne Letocha and Edith J. Chernoff -- Pallister-Hall and Greig cephalopolysyndactyly syndrome / Leslie G. Biesecker --
Contents	Prader-Willi syndrome / Suzanne B. Cassidy -- Proteus syndrome / Leslie G. Biesecker -- Rett syndrome / Eric E. Smeets and Connie T.R.M. Schrander-Stumpel -- Robin sequence / Robert J. Shprintzen -- Rubinstein-Taybi syndrome / Raoul C.M. Hennekam -- Russell-Silver syndrome / Howard M. Saal -- Smith-Lemli-Opitz syndrome / Christopher Cunniff and Theresa A. Grebe -- Smith-Magenis syndrome / Ann C.M. Smith -- Sotos syndrome / Trevor R.P. Cole -- Stickler syndrome / Clair Francomano, Douglas J. Wilkin and Ruth M. Liberfarb --
Contents	Terminal 22q- / Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers -- Treacher-Collins syndrome / Marilyn C. Jones -- Trisomy 13 and 18 syndromes / John C. Carey -- Tuberous sclerosis / John R.W. Yates -- Turner syndrome / Virginia P. Sybert -- VATER syndrome / Bryan D. Hall -- Velo-Cario-facial syndrome / Robert J. Shprintzen -- Von Hippel Lindau syndrome / R. Neil Schimke and Debra L. Collins -- WAGR syndrome / Carol L. Clericuzio -- Williams syndrome / Colleen A. Morris -- Wolf-Hirschhorn / Agatino Battaglia.
Bibliography note	Includes bibliographical references and index.
LCCN	2004004693
ISBN	0471308706 :

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