Volume 140A; Issue 9

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American Journal of Medical Genetics Part A
Volume 140A; Issue 9

American Journal of Medical Genetics Part A

Volume 140A; Issue 9

1

Prader–Willi syndrome: Development and manifestations. By Joyce Whittington and Tony Holland

Suzanne B. Cassidy

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 60 KB

english, 2006

2

Behavioral and temperamental features of children with Costello syndrome

Cédric Galéra, Marie-Ange Delrue, Cyril Goizet, Kattalin Etchegoyhen, Emmanuelle Taupiac, Sabine Sigaudy, Benoît Arveiler, Nicole Philip, Manuel Bouvard, Didier Lacombe

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

3

Regarding trisomy 18

Robert Roger Lebel, Jacquelyn Roberson, Daniel L. Van Dyke

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

4

Trisomy 18 in a second 20-year-old woman

Alan L. Shanske

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 57 KB

english, 2006

5

Survival with trisomy 18—data from Switzerland

D. Niedrist, M. Riegel, J. Achermann, A. Schinzel

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 129 KB

english, 2006

6

Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004

Hsiang-Yu Lin, Shuan-Pei Lin, Yen-Jiun Chen, Han-Yang Hung, Hsin-An Kao, Chyong-Hsin Hsu, Ming-Ren Chen, Jui-Hsing Chang, Che-Sheng Ho, Fu-Yuan Huang, Shyh-Dar Shyur, Dar-Shong Lin, Hung-Chang Lee

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 164 KB

english, 2006

7

Aplasia and duplication of the thumb and facial clefts associated with fetal trisomy 18

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 231 KB

english, 2006

8

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Tomoki Kosho, Tomohiko Nakamura, Hiroshi Kawame, Atsushi Baba, Masanori Tamura, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 100 KB

english, 2006

9

Prenatal diagnosis of hypochondroplasia: Report of two cases

C. Karadimas, S. Sifakis, P. Valsamopoulos, C. Makatsoris, V. Velissariou, G. Nasioulas, M. B. Petersen, E. Koumantakis, A. Hatzaki

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

10

Can we exclude the TXNIP gene as a candidate gene for familial combined hyperlipidemia?

Gerly M. van der Vleuten, Anneke Hijmans, Sandra Heil, Henk J. Blom, Anton F.H. Stalenhoef, Jacqueline de Graaf

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 78 KB

english, 2006

11

Clarification of data reported in “Cleidocranial Dysplasia: Molecular Genetic Analysis and Phenotypic-Based Description of a Middle European Patient Group” (AJMG 139A:78–85)

Uwe Baumert, Ilan Golan, Meir Redlich, Jean-Jacques Aknin, Dieter Muessig

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 60 KB

english, 2006

12

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

Wen-Qi Zeng, Hanlin Gao, Louise Brueton, Tim Hutchin, George Gray, Anupam Chakrapani, Simon Olpin, Vivian E. Shih

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 155 KB

english, 2006

13

A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications

D.W. Metry, A.N. Haggstrom, B.A. Drolet, E. Baselga, S. Chamlin, M. Garzon, K. Horii, A. Lucky, A.J. Mancini, B. Newell, A. Nopper, G. Heyer, I.J. Frieden

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 224 KB

english, 2006

14

Association of Adams–Oliver syndrome and hepatoportal sclerosis: An additional case

Guillaume Pouessel, Anne Dieux-Coeslier, Agnès Wacrenier, Monique Fabre, Prof. Frédéric Gottrand

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 61 KB

english, 2006

15

Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation

Masahiro Goto, Gen Nishimura, Toshiro Nagai, Kazuki Yamazawa, Tsutomu Ogata

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 125 KB

english, 2006

16

Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

María-Luisa Martínez-Frías, Belén Pérez, Lourdes R. Desviat, Margarita Castro, Fátima Leal, Laura Rodríguez, Elena Mansilla, María-Luisa Martínez-Fernández, Eva Bermejo, Elvira Rodríguez-Pinilla, Davi

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 153 KB

english, 2006

17

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome (Am J Med Genet 140A:17–23, 2006)

S. Kantarci, D. Casavant, C. Prada, M. Russell, J. Byrne, L. Wilkins Haug, R. Jennings, S. Manning, T.K. Boyd, J.P. Fryns, L.B. Holmes, P.K. Donahoe, C. Lee, V. Kimonis, B.R. Pober

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 52 KB

english, 2006

18

del5p/dup5q in a ‘cri du chat’ patient without parental chromosomal rearrangement

Ibrahim Akalin, Kanay Yararbas, Nursen Akgul, Elif Babaoglu, Guvem Gumus Akay, Sara Dyer, Nuket Yurur Kutlay, Hatice Ilgin Ruhi, Gulay Kog, Ajlan Tukun

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 205 KB

english, 2006

19

A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease

Conrad L. Leung, Narasimhan Nagan, Thomas H. Graham, Ronald K.H. Liem

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 260 KB

english, 2006

20

Introductory comments special section: Trisomy 18

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 61 KB

english, 2006

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