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Campagne de collecte 15 septembre 2024 – 1 octobre 2024

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1

Issues and concerns of couples presenting for preimplantation genetic diagnosis (PGD)

Mandy G. Katz, Lara Fitzgerald, Agnes Bankier, Julian Savulescu, David S. Cram

Journal:

Prenatal Diagnosis

Année:

2002

Langue:

english

Fichier:

PDF, 82 KB

english, 2002

2

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

Tiong Yang Tan, Agnes Bankier, Howard R. Slater, Emma L. Northrop, Margaret Zacharin, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 151 KB

english, 2005

3

Syndrome Delineation Involving Orofacial Clefting

Cohen, M. Michael, Bankier, Agnes

Journal:

The Cleft Palate-Craniofacial Journal

Année:

1991

Fichier:

PDF, 94 KB

1991

4

Use of record linkage between a statewide genetics service and a birth defects/congenital malformations register to determine use of genetic counselling services

Halliday, Jane, Griffin, Odette, Bankier, Agnes, Rose, Catherine, Riley, Merilyn

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 49 KB

english, 1997

5

Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications

Robertson, Stephen P., Lipp, Harry, Bankier, Agnes

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 405 KB

english, 1998

6

Oromandibular limb hypogenesis complex (Hanhart syndrome): A severe adult phenotype

Robertson, Stephen P., Bankier, Agnes

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 286 KB

english, 1999

7

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cant� syndrome

Robertson, Stephen P., Kirk, Edwin, Bernier, Fran�ois, Brereton, Jeff, Turner, Anne, Bankier, Agnes

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 647 KB

english, 1999

8

New case of Cole-Carpenter syndrome

Amor, David J., Savarirayan, Ravi, Schneider, Adele S., Bankier, Agnes

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 272 KB

english, 2000

9

Polymicrogyria associated with scalp and limb defects: Variant of Adams-Oliver syndrome

David J. Amor, Richard J. Leventer, Sari Hayllar, Agnes Bankier

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 715 KB

english, 2000

10

Autosomal dominant inheritance of scapuloiliac dysostosis

David J. Amor, Ravi Savarirayan, Agnes Bankier, Fred Jensen, Simon P. Hauser

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 163 KB

english, 2000

11

SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature

Luisa Nanni, Jeffrey E. Ming, Yangzhu Du, Roger K. Hall, Michael Aldred, Agnes Bankier, Maximilian Muenke

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 352 KB

english, 2001

12

Familial occurrence of Brachmann-de Lange syndrome

Dr. Agnes Bankier, Eric Haan, Robert Birrell, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 208 KB

english, 1986

13

Geleophysic dysplasia

James E. Wraith, Agnes Bankier, C. W. Chow, Dr. David M. Danks, Imdad B. Sardharwalla

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 449 KB

english, 1990

14

Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome

Dr. John Christodoulou, Agnes Bankier, Peter Loughnan

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 257 KB

english, 1990

15

Piebaldism, an autosomal dominant trait distinct from waardenburg syndrome

Agnes Bankier, Leslie Sheffield

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 129 KB

english, 1990

16

CHARGE association: Clinical manifestations and developmental outcome

A. Simon Harvey, Patricia M. Leaper, Dr. Agnes Bankier

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 891 KB

english, 1991

17

Johnson-McMillin syndrome: Report of another family

Agnes Bankier, Catherine M. Rose

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 77 KB

english, 1994

18

Varadi syndrome or Opitz trigonocephaly: Overlapping manifestation in two cousins

Dr. Agnes Bankier, Catherine M. Rose

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 89 KB

english, 1994

19

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2–Xq28

David J. Amor, Hans-Henrik M. Dahl, Melanie Bahlo, Agnes Bankier

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 182 KB

english, 2007

20

Consumer contribution to the delivery of genetic health services

Amy Nisselle, Robin Forbes, Agnes Bankier, Eilís Hughes, MaryAnne Aitken

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 88 KB

english, 2008

21

Two cases of trisomy 16 mosaicism ascertained postnatally

Claudine Rieubland, David Francis, Leonie Houben, Sylvea Corrie, Agnes Bankier, Susan M. White

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 103 KB

english, 2009

22

Hypogonadotrophic hypogonadism in Roifman syndrome

Stephen P Robertson, Christine Rodda, Agnes Bankier

Journal:

Clinical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 129 KB

english, 2000

23

Karyotype abnormalities in fetuses diagnosed as abnormal on ultrasound before 20 weeks' gestational age

Jane Halliday, Judith Lumley, Agnes Bankier

Journal:

Prenatal Diagnosis

Année:

1994

Langue:

english

Fichier:

PDF, 672 KB

english, 1994

24

Pelvis-shoulder dysplasia

S. E. Hauser, Juan M. Chemke, Agnes Bankier

Journal:

Pediatric Radiology

Année:

1998

Langue:

english

Fichier:

PDF, 245 KB

english, 1998

25

Determinants of Preferences for Genetic Counselling in Jewish Women

Carmel Apicella, Stuart J. Peacock, Lesley Andrews, Katherine Tucker, Agnes Bankier, Mary B. Daly, John L. Hopper

Journal:

Familial Cancer

Année:

2006

Langue:

english

Fichier:

PDF, 299 KB

english, 2006

26

The 4q-syndrome: delineation of the minimal critical region to within band 4q31

Stephen P. Robertson, Kelly O'Day, Agnes Bankier

Journal:

Clinical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 1.14 MB

english, 1998

27

LETTER OF RESPONSE TO EDITORIAL BY R WILLIAMSON (SEPTEMBER 2003)

Journal:

Journal of Paediatrics and Child Health

Année:

2004

Langue:

english

Fichier:

PDF, 157 KB

english, 2004

28

Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis

John Massie, Robin Forbes, Desiree DuSart, Agnes Bankier, Martin B Delatycki

Journal:

Journal of Paediatrics and Child Health

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

29

Population-based carrier screening for cystic fibrosis in Victoria: The first three years experience

John MASSIE, Vicki PETROU, Robyn FORBES, Lisette CURNOW, Liane IOANNOU, Desiree DUSART, Agnes BANKIER, Martin DELATYCKI

Journal:

Australian and New Zealand Journal of Obstetrics and Gynaecology

Année:

2009

Langue:

english

Fichier:

PDF, 324 KB

english, 2009

30

10.1038/8719

Hanauer, André, Merienne, Karine, Jacquot, Sylvie, Pannetier, Solange, Zeniou, Maria, Bankier, Agnes, Gecz, Jozef, Mandel, Jean-Louis, Mulley, John, Sassone-Corsi, Paolo

Journal:

Nature Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 230 KB

english, 1999

31

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

Giannakudis, Joannis, Röpke, Albrecht, Kujat, Annegret, Krajewska-Walasek, Malgorzata, Hughes, Helen, Fryns, Jean-Pierre, Bankier, Agnes, Amor, David, Schlicker, Mike, Hansmann, Ingo

Journal:

European Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 179 KB

english, 2001

32

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

Giannakudis, Joannis, Röpke, Albrecht, Kujat, Annegret, Krajewska-Walasek, Malgorzata, Hughes, Helen, Fryns, Jean-Pierre, Bankier, Agnes, Amor, David, Schlicker, Mike, Hansmann, Ingo

Journal:

European Journal of Human Genetics

Année:

2001

Fichier:

PDF, 37 KB

2001

33

A new disorder of hyaluronan metabolism associated generalized folding and thickening of the skin

C.Andrew Ramsden, Agnes Bankier, Tracey J Brown, Peter S.J Cowen, Gregory I Frost, Dugald D McCallum, Virginia P Studdert, J.Robert E Fraser

Journal:

The Journal of Pediatrics

Année:

2000

Langue:

english

Fichier:

PDF, 16.75 MB

english, 2000

34

Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome

Roger K Hall, Agnes Bankier, Michael J Aldred, Karen Kan, James O Lucas, A.Graeme B Perks

Journal:

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology

Année:

1997

Langue:

english

Fichier:

PDF, 3.36 MB

english, 1997

35

Accurate and Accessible Genetic Testing for Long QT Syndrome

Lucas Eastaugh, Jitu Vohra, Ivan Macciocca, Dean Phelan, Vanessa Connell, Ingrid Winship, Agnes Bankier, Paul James, Desiree du Sart, Andrew Davis

Journal:

Heart Lung & Circulation

Année:

2008

Langue:

english

Fichier:

PDF, 80 KB

english, 2008

36

Gingival fibromatosis and Klippel-Trénaunay-Weber syndrome: Case report

K.B. Hallett, Agnes Bankier, Chung W. Chow, John Bateman, Roger K. Hall

Journal:

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology

Année:

1995

Langue:

english

Fichier:

PDF, 3.67 MB

english, 1995

37

Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience

Lew, Raelia M, Burnett, Leslie, Proos, Anné L, Barlow-Stewart, Kristine, Delatycki, Martin B, Bankier, Agnes, Aizenberg, Harry, Field, Michael J, Berman, Yemima, Fleischer, Ronald, Fietz, Michael

Journal:

Journal of Paediatrics and Child Health

Année:

2015

Langue:

english

Fichier:

PDF, 354 KB

english, 2015

38

Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter

Savarirayan, Ravi, Robertson, Stephen P, Bankier, Agnes, Rogers, John G

Journal:

Fetal and Pediatric Pathology

Année:

2003

Langue:

english

Fichier:

PDF, 5.82 MB

english, 2003

39

DECREASED PANCREATIC SOMATOSTATIN (SRIF) CONCENTRATION IN SPONTANEOUSLY DIABETIC MICE

Patel, Yogesh C., Orci, Lelio, Bankier, Agnes, Cameron, Donald P.

Journal:

Année:

1976

Langue:

english

Fichier:

PDF, 300 KB

english, 1976

40

Changes in Somatostatin Concentration in Pancreas and Other Tissues of Streptozotocin Diabetic Rats*

PATEL, YOGESH C., CAMERON, DONALD P., BANKIER, AGNES, MALAISSE-LAGAE, FRANCINE, RAVAZZOLA, MARIELLA, STUDER, PETER, ORCI, LELIO

Journal:

Année:

1978

Langue:

english

Fichier:

PDF, 765 KB

english, 1978

41

Short communication: POSSUM: The Microcomputer Laser-Videodisk Syndrome Information System

Bankier, Agnes, Keith, C. Gregory

Journal:

Ophthalmic Genetics

Année:

1989

Langue:

english

Fichier:

PDF, 270 KB

english, 1989

42

Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1???2 syndactyly, heterotopic olivary tissue and thymic hypoplasia

Tan, Tiong Yang, Nazaretian, Simon, McGillivray, George, Simpson, Ian, Bankier, Agnes

Journal:

Clinical Dysmorphology

Année:

2006

Langue:

english

Fichier:

PDF, 386 KB

english, 2006

43

Focal Segmental Glomerulosclerosis in Patients with Mandibuloacral Dysplasia Owing to ZMPSTE24 Deficiency

Agarwal, Anil K., Zhou, Xin J., Hall, Roger K., Nicholls, Kathy, Bankier, Agnes, Van Esch, Hilde, Fryns, Jean-Pierre, Garg, Abhimanyu

Journal:

Journal of Investigative Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 306 KB

english, 2006

44

Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling

Gason, Alexandra A, Metcalfe, Sylvia A, Delatycki, Martin B, Petrou, Vicki, Sheffield, Edith, Bankier, Agnes, Aitken, MaryAnne

Journal:

Genetics in Medicine

Année:

2005

Langue:

english

Fichier:

PDF, 481 KB

english, 2005

45

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews

Lew, Raelia M, Proos, Anne L, Burnett, Leslie, Delatycki, Martin, Bankier, Agnes, Fietz, Michael J

Journal:

The Medical Journal of Australia

Année:

2012

Langue:

english

Fichier:

PDF, 134 KB

english, 2012

46

Syndrome Delineation Involving Orofacial Clefting

Cohen, M. Michael, Bankier, Agnes

Journal:

The Cleft Palate-Craniofacial Journal

Année:

1991

Fichier:

PDF, 93 KB

1991

47

Suggested actions from the Melbourne HVP Information Seminar

Cotton, Richard, Axton, Myles, Bankier, Agnes, Brais, Bernard, Cavedon, Lawrence, du Sart, Desirée, George, Peter, Goldgar, David, Harrison, Terence, Hibbert, Marienne, Hopper, John, Macrae, Finlay, O

Journal:

Bioentrepreneur

Année:

2008

Langue:

english

Fichier:

PDF, 96 KB

english, 2008

48

Suggested actions from the Melbourne HVP Information Seminar

Cotton, Richard, Axton, Myles, Bankier, Agnes, Brais, Bernard, Cavedon, Lawrence, du Sart, Desirée, George, Peter, Goldgar, David, Harrison, Terence, Hibbert, Marienne, Hopper, John, Macrae, Finlay, O

Journal:

Nature Precedings

Année:

2008

Langue:

english

Fichier:

PDF, 96 KB

english, 2008

49

Suggested actions from the Melbourne HVP Information Seminar

Cotton, Richard, Axton, Myles, Bankier, Agnes, Brais, Bernard, Cavedon, Lawrence, du Sart, Desirée, George, Peter, Goldgar, David, Harrison, Terence, Hibbert, Marienne, Hopper, John, Macrae, Finlay, O

Journal:

Bioentrepreneur

Année:

2008

Fichier:

PDF, 96 KB

2008

50

Suggested actions from the Melbourne HVP Information Seminar

Cotton, Richard, Axton, Myles, Bankier, Agnes, Brais, Bernard, Cavedon, Lawrence, du Sart, Desirée, George, Peter, Goldgar, David, Harrison, Terence, Hibbert, Marienne, Hopper, John, Macrae, Finlay, O

Journal:

Nature Precedings

Année:

2008

Fichier:

PDF, 96 KB

2008