0148-6403 < 0148-7299 < 0149-0508

Facettes : Author.f

List of bibliographic references

Number of relevant bibliographic references: 27.
[0-20] [0 - 20][0 - 27][20-26][20-40]

Ident.	Authors (with country if any)	Title
000A16 (1998)	Alan Shanske ; Issac Sachmechi ; Dinesh K. Patel ; Alka Bishnoi ; Fred Rosner	An adult with 49,XYYYY karyotype: Case report and endocrine studies
000D76 (1990)	R. Gershoni-Baruch ; E. V. Moor ; R. Enat	Marfan syndrome associated with bicuspid aortic valve, premature aging, and primary hypogonadism
001339 (1983)	Virginia P. Johnson ; J. Michael Mcmillin ; Thomas Aceto Jr. ; George Bruins ; George John M.	A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism
001378 (2002)	Alasdair G. W. Hunter	Coffin‐Lowry syndrome: A 20‐year follow‐up and review of long‐term outcomes
001D04 (1989)	Sandy C. Marks Jr.	Osteoclast biology: Lessons from mammalian mutations
003074 (1993)	A. V. Hing ; S. B. Dowton	Aase syndrome: Novel radiographic features
003176 (1986)	Ann C. M. Smith ; Loris Mcgavran ; Jeannie Robinson ; Gail Waldstein ; Jean Macfarlane ; Jon Zonona ; Jacob Reiss ; Martin Lahr ; Leland Allen ; Ellen Magenis ; John M. Opitz ; James F. Reynolds	Interstitial deletion of (17)(p11.2p11.2) in nine patients
003247 (1995)	Patricia G. Wheeler ; David D. Weaver ; Catherine G. Palmer	Familial translocation resulting in Wolf‐Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39‐year‐old man with Wolf‐Hirschhorn syndrome
003394 (1985)	L. Stefan Levin ; John M. Wright ; D. Lamar Byrd ; Guerdon Greenway ; John P. Dorst ; Roshen N. Irani ; Reed E. Pyeritz ; Richard J. Young ; C. L. Laspia ; John M. Opitz ; James F. Reynolds	Osteogenesis imperfecta with unusual skeletal lesions: Report of three families
003579 (1994)	Alisa M. Goldstein ; Berham Pastakia ; John J. Digiovanna ; Susanna Poliak ; Sandra Santucci ; Ronald Kase ; Allen E. Bale ; Sherri J. Bale	Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)
003B66 (1997)	William J. Craigen ; Moise L. Levy ; And Richard A. Lewis	Schöpf‐Schulz‐Passarge syndrome with an unusual pattern of inheritance
003D10 (1990)	M. W. Partington	Rubinstein‐Taybi syndrome: A follow‐up study
003E88 (1988)	Oliver W. J. Quarrell ; Merryl A. Hamill ; Helen E. Hughes ; John M. Opitz ; James F. Reynolds	Pallister‐Killian mosaic syndrome with emphasis on the adult phenotype
004181 (1977)	Claudette Hajaj Gonzalez ; Annemarie Sommer ; Lorraine F. Meisner ; B. Rafael Elejalde ; John M. Opitz ; U. Francke	The trisomy 4p syndrome: Case report and review
004914 (1992)	Rhiannon M. Hughes-Benzie ; Alasdair G. W. Hunter ; Judith E. Allanson ; Alex E. Mackenzie	Simpson‐golabi‐behmel syndrome associated with renal dysplasia and embryonal tumor: Localization of the gene to Xqcen‐q21
004A32 (2001)	Bishakha Rajagopalan	Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa
004B01 (1986)	Romano Tenconi ; Francesca Miotti ; Antonio Miotti ; Giuliano Audino ; Roberto Ferro ; Maurizio Clementi ; Giovanni Neri	Another Italian family with mandibuloacral dysplasia: Why does it seem more frequent in Italy?
004E20 (1978)	Ronald J. Jorgenson ; L. Stefan Levin ; Harold E. Cross ; Freda Yoder ; Thaddeus E. Kelly ; Clarke Fraser	The Rieger syndrome
005251 (1990)	Raoul C. M. Hennekam ; Jaap M. Van Doorne	Oral aspects of Rubinstein‐Taybi syndrome
005832 (1990)	James K. Hartsfield Jr. ; Boris G. Kousseff	Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII
005D85 (2000)	John M. Opitz ; Edward B. Clark	Heart development: An introduction

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