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Volume 101; Issue 1

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American Journal of Medical Genetics Part A
Volume 101; Issue 1

American Journal of Medical Genetics Part A

Volume 101; Issue 1

1

VATER non-random association of congenital malformations: Study based on data from four malformation registers

Karin Källén, Pierpaolo Mastroiacovo, Eduardo E. Castilla, Elisabeth Robert, Bengt Källén

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 131 KB

english, 2001

2

Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 32 KB

english, 2001

3

Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

Ruben E. Quiros-Tejeira, Jorge Vargas, Marvin E. Ament

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 64 KB

english, 2001

4

Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome

Deborah A. Elder, Kathleen Kaiser-Rogers, Arthur S. Aylsworth, Ali S. Calikoglu

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 76 KB

english, 2001

5

Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters

Jane Boyle, Karan Sangha, Fred Dill, Wendy P. Robinson, Siu-Li Yong

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 123 KB

english, 2001

6

Goldenhar anomaly in one triplet derived from intracytoplasmic sperm injection (ICSI)

Christine Roesch, Volker Steinbicker, Christel Korb, Ludwig von Rohden, Johannes Schmitt

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

7

Impact of sulfonylurea receptor 1 genetic variability on non-insulin-dependent diabetes mellitus prevalence and treatment: A population study

Aline Meirhaeghe, Nicole Helbecque, Dominique Cottel, Dominique Arveiler, Jean-Bernard Ruidavets, Bernadette Haas, Jean Ferrières, Jean-Pierre Tauber, Annie Bingham, Philippe Amouyel

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 92 KB

english, 2001

8

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

Valérie Drouin-Garraud, Mathilde Belgrand, Stéphanie Grünewald, Nathalie Seta, Jean-Nicolas Dacher, Alain Hénocq, Gert Matthijs, Valérie Cormier-Daire, Thierry Frébourg, Pascale Saugier-Veber

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 76 KB

english, 2001

9

It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor

M.L. Martínez-Frías, L. Rodríguez, E. Bermejo, F. López, E. Rodríguez-Pinilla

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 33 KB

english, 2001

10

Reply to the letter to the editor by Martínez-Frías et al.—“It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor”

Sixto Garcia-Minaur

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 36 KB

english, 2001

11

Cytogenetic and molecular characterization of two isodicentric Y chromosomes

Paweł Stankiewicz, Zofia Hélias-Rodzewicz, Krystyna Jakubów-Durska, Ewa Bocian, Ewa Obersztyn, Gudrun A. Rappold, Tadeusz Mazurczak

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 258 KB

english, 2001

12

New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay

Fida Bacha, Joe J. Hoo

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 142 KB

english, 2001

13

Approaches to the analysis of infants with multiple congenital anomalies

M.L. Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 52 KB

english, 2001

14

Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia

Kara K. Reynolds, Peggy Modaff, Richard M. Pauli

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 117 KB

english, 2001

15

Unique case of trisomy 2p24.3-pter with no associated monosomy

Jennifer A. Roggenbuck, James M. Fink, Nancy J. Mendelsohn

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 203 KB

english, 2001

16

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): Molecular identification of a novel IVS9 (+2GT→GC) in combination with rare IVS10 (+1GT→CT)

Marina Stroppiano, Gloria Bonuccelli, Fabio Corsolini, Mirella Filocamo

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 143 KB

english, 2001

17

Causes of premature death in Proteus syndrome

M. Michael Cohen Jr.

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 49 KB

english, 2001

18

Liver fibrocystic disease and polydactyly: Proposal of a new syndrome

Carmen Esmer, Antonio Alvarez-Mendoza, Esther Lieberman, Victoria Del Castillo, Cecilia Ridaura-Sanz

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 220 KB

english, 2001

19

Mutation A1298C of methylenetetrahydrofolate reductase: Risk for early coronary disease not associated with hyperhomocysteinemia

Andrzej Szczeklik, Marek Sanak, Miłosz Jankowski, Jerzy Dropiński, Renata Czachór, Jacek Musiał, Irena Axenti, Magdalena Twardowska, Tomasz Brzostek, Michał Tendera

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 78 KB

english, 2001

20

Angelman syndrome: Mimicking conditions and phenotypes

Charles A. Williams, Amy Lossie, Daniel Driscoll

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 173 KB

english, 2001

21

Metaphyseal dysplasia: A new autosomal dominant type in a large German kindred

Hans-Steffen Braun, Peter Nürnberg, Sigrid Tinschert

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 202 KB

english, 2001

22

Reply to the letter to the editor by Teebi—“not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome”

Yakup Aslan, Erol Erduran, Necmettin Kutlu

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 43 KB

english, 2001