Volume 112; Issue 2

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American Journal of Medical Genetics Part A
Volume 112; Issue 2

American Journal of Medical Genetics Part A

Volume 112; Issue 2

1

Neuroimaging fails to identify asymptomatic carriers of familial porencephaly

C. Vilain, N. Van Regemorter, A. Verloes, P. David, P. Van Bogaert

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 149 KB

english, 2002

2

Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)

J. Fiedler, J. Stöve, F. Heber, R.E. Brenner

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 352 KB

english, 2002

3

Facial features in Alagille syndrome: Specific or cholestasis facies?

Binita M. Kamath, Kathleen M. Loomes, Rebecca J. Oakey, Karan E.M. Emerick, Tracy Conversano, Nancy B. Spinner, David A. Piccoli, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 364 KB

english, 2002

4

Characterization of Notch receptor expression in the developing mammalian heart and liver

Kathleen M. Loomes, Darren B. Taichman, Curtis L. Glover, Patrick T. Williams, Jonathan E. Markowitz, David A. Piccoli, H. Scott Baldwin, Rebecca J. Oakey

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 890 KB

english, 2002

5

Craniosynostosis in Alagille syndrome

Binita M. Kamath, Catherine Stolle, Lynn Bason, Raymond P. Colliton, David A. Piccoli, Nancy B. Spinner, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 147 KB

english, 2002

6

Alagille syndrome: Chipping away at the tip of the iceberg

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 44 KB

english, 2002

7

Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance

Binita M. Kamath, Ian D. Krantz, Nancy B. Spinner, James E. Heubi, David A. Piccoli

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 91 KB

english, 2002

8

Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion

Ayala Laufer-Cahana, Ian D. Krantz, Lynn D. Bason, Feng-Min Lu, David A. Piccoli, Nancy B. Spinner

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 141 KB

english, 2002

9

Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication

Brendan D. Kelly, Kristin Becker, Victoria Kermode, Raymond L. Stallings, Raymond P. Murphy, Andrew J. Green, John Hillery

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

10

Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

Binita M. Kamath, Kathleen M. Loomes, Rebecca J. Oakey, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 222 KB

english, 2002

11

Auriculo-condylar syndrome: Additional patients

Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Siulan Vendramini, Nancy Mizue Kokitsu-Nakata

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 230 KB

english, 2002

12

Progressive vertebral fusion of unknown etiology: A case report

Jennifer H. Farrior, David D. Weaver, Thomas F. Kling, Eugene Klatte

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 307 KB

english, 2002

13

Neonatal Proteus syndrome?

Atia G. Mohamedbhai, A.M. Hassan Miyan, Didier Lacombe

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 146 KB

english, 2002

14

Association of nonsyndromic Wilms tumor with premature centromere division (PCD)

K. Méhes, P. Kajtár, G. Kosztolányi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 59 KB

english, 2002

15

Agnathia-otocephaly complex: Report of three cases with involvement of two different Carnegie stages

Christiane Schiffer, Gholamali Tariverdian, Monika Schiesser, Mary C. Thomas, Consolato Sergi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 140 KB

english, 2002

16

Influence of ADH1B polymorphism on alcohol use and its subjective effects in a Jewish population

Lucinda G. Carr, Tatiana Foroud, Trent Stewart, Peter Castelluccio, Howard J. Edenberg, Ting-Kai Li

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 70 KB

english, 2002

17

Referral for genetic counseling after the birth of a child with a congenital anomaly in the Northern Netherlands

Ewold H. Sikkens, Hermien E.K. de Walle, Jennita Reefhuis, J. Peter van Tintelen, Anthonie J. van Essen

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002

18

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb

Maria Clara Bonaglia, Roberto Giorda, Romeo Carrozzo, Maria Elena Roncoroni, Rita Grasso, Renato Borgatti, Orsetta Zuffardi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

19

Evidence for imprinting on chromosome 16: The effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies

P.J. Yong, S.A. Marion, I.J. Barrett, D.K. Kalousek, W.P. Robinson

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 110 KB

english, 2002

20

Werner Schmid 1930–2002

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 51 KB

english, 2002

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