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Judith Allanson

Research Profile

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Face

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Judith E Allanson; Swaroop Aradhya; Emilia Bijlsma; Kym Boycott; Dennis Bulman; Susan F Crocker; Bruno Dallapiccola; Emilio Donti; David Fitzpatrick; Heather Hare; Bertrand Isidor; Olga Jarinova; Katherine Lachlan; Cédric Le Caignec; Jean McGowan-Jordan; Paolo Prontera; Annick Raas-Rothschild; Daniela Rogaia; Amanda Smith; Bregje van Bon; Beate Albrecht; Christina Ringmann Fagerberg
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
Walla Al-Hertani; Jean McGowan-Jordan; Judith E Allanson
Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.
Christina Honeywell; Jean McGowan-Jordan; Judith E Allanson; Bob Argiropoulos; Andrea L Blumenthal; Stuart Douglas; M Elizabeth McCready
Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree.

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All Publications

2012: Judith E Allanson; Swaroop Aradhya; Emilia Bijlsma; Kym Boycott; Dennis Bulman; Susan F Crocker; Bruno Dallapiccola; Emilio Donti; David Fitzpatrick; Heather Hare; Bertrand Isidor; Olga Jarinova; Katherine Lachlan; Cédric Le Caignec; Jean McGowan-Jordan; Paolo Prontera; Annick Raas-Rothschild; Daniela Rogaia; Amanda Smith; Bregje van Bon; Beate Albrecht; Christina Ringmann Fagerberg
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
American journal of medical genetics. Part A 2012;158A(9):2091-9.
2012: Walla Al-Hertani; Jean McGowan-Jordan; Judith E Allanson
Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.
American journal of medical genetics. Part A 2012;158A(6):1452-4.
2012: Christina Honeywell; Jean McGowan-Jordan; Judith E Allanson; Bob Argiropoulos; Andrea L Blumenthal; Stuart Douglas; M Elizabeth McCready
Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree.
American journal of medical genetics. Part A 2012;158A(6):1262-8.
2011: Judith E Allanson; Raoul C M Hennekam; Ute Moog; Eric E Smeets
Rett syndrome: a study of the face.
American journal of medical genetics. Part A 2011;155A(7):1563-7.
2010: Judith E Allanson; Axel Bohring; Helmuth-Guenther Dörr; Andreas Dufke; Gabriele Gillessen-Kaesbach; Denise Horn; Rainer König; Christian P Kratz; Kerstin Kutsche; Silke Pauli; Salmo Raskin; Anita Rauch; Anne Turner; Dagmar Wieczorek; Martin Zenker
The face of Noonan syndrome: Does phenotype predict genotype.
American journal of medical genetics. Part A 2010;152A(8):1960-6.
2009: Melissa T Carter; Francois D Jacob; Elizabeth Sinclair-Bourque; Reena Ray; Judith E Allanson
Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation.
Clinical dysmorphology 2009;18(2):103-6.
2009: Judith E Allanson; Leslie G Biesecker; John C Carey; Raoul Hennekam
Elements of morphology: introduction.
American journal of medical genetics. Part A 2009;149A(1):2-5.
2009: Judith E Allanson; Christopher Cunniff; H Eugene Hoyme; Julie McGaughran; Max Muenke; Giovanni Neri
Elements of morphology: standard terminology for the head and face.
American journal of medical genetics. Part A 2009;149A(1):6-28.
2008: Katherine A Rauen; Erin Hefner; Kristin Carrillo; Jill Taylor; Laure Messier; Yoko Aoki; Karen W Gripp; Yoichi Matsubara; Virginia K Proud; Peter Hammond; Judith E Allanson; Marie-Ange Delrue; Marni E Axelrad; Angela E Lin; Daniel A Doyle; Bronwyn Kerr; John C Carey; Frank McCormick; Alcino J Silva; Mark W Kieran; Aleksander Hinek; Tan T Nguyen; Lisa Schoyer
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007.
American journal of medical genetics. Part A 2008;146A(9):1205-17.
2008: Christine M Armour; Jean McGowan-Jordan; Sarah E Lawrence; Amélie Bouchard; Mark Basik; Judith E Allanson
A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).
Clinical dysmorphology 2008;17(1):23-6.
2007: Judith E Allanson; Ines Kavamura; Giovanni Neri; Jacqueline Noonan; Alexis Poss; Bronwyn Kerr
Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway.
European journal of medical genetics 2007;50(6):482-3.
2007: Martin Zenker; Denise Horn; Dagmar Wieczorek; Judith E Allanson; Silke Pauli; Ineke van der Burgt; Helmuth-Guenther Doerr; Harald Gaspar; Michael Hofbeck; Gabriele Gillessen-Kaesbach; Andreas Koch; Peter Meinecke; Stefan Mundlos; Anja Nowka; Anita Rauch; Silke Reif; Christian von Schnakenburg; Heide Seidel; Lars-Erik Wehner; Christiane Zweier; Susanne Bauhuber; Verena Matejas; Christian P Kratz; Christoph Thomas; Kerstin Kutsche
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Journal of medical genetics 2007;44(10):651-6.
2007: Judith E Allanson
Noonan syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(3):274-9.
2006: A Roberts; Judith E Allanson; S K Jadico; Maria Ines Kavamura; J Noonan; John M Opitz; T Young; Giovanni Neri
The cardiofaciocutaneous syndrome.
Journal of medical genetics 2006;43(11):833-42.
2006: Judith E Allanson; Cynthia J R Curry
Introduction to Judith Hall Festschrift.
American journal of medical genetics. Part A 2006;140(2):111-3.
2005: Peter Hammond; Tim J Hutton; Judith E Allanson; Bernard Buxton; Linda E Campbell; Jill Clayton-Smith; Dian Donnai; Annette Karmiloff-Smith; Kay Metcalfe; Kieran C Murphy; Michael Patton; Barbara Pober; Katrina Prescott; Peter J Scambler; Adam Shaw; Ann C M Smith; Angela F Stevens; I Karen Temple; Raoul Hennekam; May Tassabehji
Discriminating power of localized three-dimensional facial morphology.
American journal of human genetics 2005;77(6):999-1010.
2005: M Cappelli; S Verma; Y Korneluk; A Hunter; E Tomiak; Judith E Allanson; C DeGrasse; L Corsini; L Humphreys
Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer.
Clinical genetics 2005;67(6):481-91.
2005: Linlea Armstrong; Judith E Allanson; David D Weaver; Carole J Bevan; Holly H Hobart
Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37.
American journal of medical genetics. Part A 2005;134(3):299-304.
2005: Alasdair G W Hunter; M Cappelli; L Humphreys; Judith E Allanson; T T Chiu; C Peeters; David Moher; A Zimak
A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients.
Clinical genetics 2005;67(4):303-13.
2005: Linlea Armstrong; Azza Abd El Moneim; Kirk Aleck; David J Aughton; Clarisse Baumann; Stephen R Braddock; Gabriele Gillessen-Kaesbach; John M Graham; Theresa A Grebe; Karen W Gripp; Bryan D Hall; Raoul Hennekam; Alasdair Hunter; Kim Keppler-Noreuil; Didier Lacombe; Angela E Lin; Jeffrey E Ming; Nancy Mizue Kokitsu-Nakata; Sarah M Nikkel; Nicole Philip; Annick Raas-Rothschild; Annemarie Sommer; Alain Verloes; Claudia Walter; Dagmar Wieczorek; Marc S Williams; Elaine Zackai; Judith E Allanson
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
American journal of medical genetics. Part A 2005;132A(3):265-72.
2004: Peter Hammond; Tim J Hutton; Judith E Allanson; Linda E Campbell; Raoul Hennekam; Sean Holden; Michael A Patton; Adam Shaw; I Karen Temple; Matthew Trotter; Kieran C Murphy; Robin M Winter
3D analysis of facial morphology.
American journal of medical genetics. Part A 2004;126A(4):339-48.
2004: C Steiner; Nadia Ehtesham; Kent D Taylor; Eiman Sebald; R Cantor; Lily M King; Xiuqing Guo; Tieu Hang; M S Hu; J-R Cui; B Friedman; D Norato; Judith E Allanson; C Honeywell; G Mettler; F Field; Ralph S Lachman; Daniel H Cohn; Deborah Krakow
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.
Journal of medical genetics 2004;41(4):266-9.
2004: Deborah Krakow; Stephen P Robertson; Lily M King; Timothy Morgan; Eiman Sebald; Cristina Bertolotto; Sebastian Wachsmann-Hogiu; Dora Acuna; Sandor S Shapiro; Toshiro Takafuta; Salim Aftimos; Chong A Kim; Helen V Firth; Carlos E Steiner; Valérie Cormier-Daire; andrea superti-furga; Luisa Bonafe; John M Graham; Arthur Grix; Carlos A Bacino; Judith E Allanson; Martin G Bialer; Ralph S Lachman; David L Rimoin; Daniel H Cohn
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Nature genetics 2004;36(4):405-10.
2004: David P D'Cruz; Susana Mellor-Pita; Beatriz Joven; Giovanni Sanna; Judith E Allanson; James Taylor; Munther A Khamashta; G R V Hughes
Transverse myelitis as the first manifestation of systemic lupus erythematosus or lupus-like disease: good functional outcome and relevance of antiphospholipid antibodies.
The Journal of rheumatology 2004;31(2):280-5.
2003: Xavier de Mollerat du Jeu; Fiorella Gurrieri; Chad T Morgan; Eugenio Sangiorgi; David B Everman; Paola Gaspari; Jeanne Amiel; Michael Bamshad; Robert Lyle; Jean-Louis Blouin; Judith E Allanson; Bernard Le Marec; Melba Wilson; Nancy E Braverman; Uppala Radhakrishna; Celia Delozier-Blanchet; Albert G Abbott; Vincent Elghouzzi; Stylianos E Antonarakis; Roger E Stevenson; Arnold Munnich; Giovanni Neri; Charles E Schwartz
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
Human molecular genetics 2003;12(16):1959-71.
2003: Judith E Allanson; Ruth Newbury-Ecob
Holt-Oram syndrome: is there a "face"?
American journal of medical genetics. Part A 2003;118A(4):314-8.
2003: Carlos Cardoso; Richard J Leventer; Heather L Ward; Kazuhito Toyo-Oka; June Chung; Alyssa Gross; Christa Lese Martin; Judith E Allanson; Daniela T Pilz; Ann H Olney; Osvaldo M Mutchinick; Shinji Hirotsune; Anthony Wynshaw-Boris; William B Dobyns; David Ledbetter
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
American journal of human genetics 2003;72(4):918-30.
2003: Linlea Armstrong; Jean McGowan-Jordan; Kathleen Brierley; Judith E Allanson
De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.
American journal of medical genetics. Part A 2003;116A(1):71-6.
2002: Inge D C Van Balkom; Marielle Alders; Judith E Allanson; Carlo Bellini; Ulrich Frank; Greetje De Jong; Ingeborg Kolbe; Didier Lacombe; Stan Rockson; Peter C Rowe; Frits A Wijburg; Raoul Hennekam
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.
American journal of medical genetics 2002;112(4):412-21.
2002: Judith E Allanson
The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHP-2.
Pediatric research 2002;52(4):471.
2002: Judith E Allanson
A second family with blepharo-naso-facial syndrome.
Clinical dysmorphology 2002;11(3):191-4.
2002: Judith E Allanson
Pitfalls of genetic diagnosis in the adolescent: the changing face.
Adolescent medicine (Philadelphia, Pa.) 2002;13(2):257-68, vi.
2002: Christina Honeywell; Leonard Langer; Judith E Allanson
Spondylocarpotarsal synostosis with epiphyseal dysplasia.
American journal of medical genetics 2002;109(4):318-22.
2001: M Cappelli; LC Surh; L Humphreys; S Verma; D Logan; A Hunter; Judith E Allanson
Measuring women's preferences for breast cancer treatments and BRCA1/BRCA2 testing.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2001;10(7):595-607.
1999: M Cappelli; LC Surh; L Humphreys; S Verma; D Logan; A Hunter; Judith E Allanson
Psychological and social determinants of women's decisions to undergo genetic counseling and testing for breast cancer.
Clinical genetics 1999;55(6):419-30.
1999: Judith E Allanson; F Greenberg; A C Smith
The face of Smith-Magenis syndrome: a subjective and objective study.
Journal of medical genetics 1999;36(5):394-7.
1997: M Cappelli; LC Surh; S Verma; W Ryan; D Logan; Y Korneluk; David Feeny; A Hunter; Judith E Allanson
Canadian women's attitudes towards breast cancer gene testing.
American journal of human genetics 1997;61(4):A187.
1997: Judith E Allanson; Raoul Hennekam
Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure.
American journal of medical genetics 1997;71(4):414-9.
1997: A L Blumenthal; Judith E Allanson
Turner syndrome in a mother and daughter: r(X) and fertility.
Clinical genetics 1997;52(3):187-91.
1997: Judith E Allanson; Raoul Hennekam; M Ireland
De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.
Journal of medical genetics 1997;34(8):645-50.