Search Results - (ISBN/ISSN/ISMN:0148-7299 OR ISBN/ISSN/ISMN:1096-8628)

1

Pre- and postnatal diagnosis of limb anomalies: A series of 107 cases

by Holder-Espinasse, Muriel, Devisme, Louise, Thomas, Dominique, Boute, Odile, Vaast, Pascal, Fron, Damien, Herbaux, Bernard, Puech, Francis, Manouvrier-Hanu, Sylvie
Published in American Journal of Medical Genetics (2004)

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2

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy

by Moretti, Paolo, Blazo, Maria, Garcia, Leonardo, Armstrong, Dawna, Lewis, Richard Alan, Roa, Benjamin, Scaglia, Fernando
Published in American Journal of Medical Genetics (2004)

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3

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation

by Gropman, Andrea, Chen, Tian-Jian, Perng, Cherng-Lih, Krasnewich, Donna, Chernoff, Edith, Tifft, Cynthia, Wong, Lee-Jun C.
Published in American Journal of Medical Genetics (2004)

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4

Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation

by Tarnopolsky, Mark A., Baker, Steven K., Myint, Tomoko, Maxner, C.E., Robitaille, J., Robinson, Brian H.
Published in American Journal of Medical Genetics (2004)

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5

A family with X-linked recessive fusion of metacarpals IV and V

by Lonardo, Fortunato, Della Monica, Matteo, Riccardi, Giovanni, Riccio, Ilaria, Riccio, Vincenzo, Scarano, Gioacchino
Published in American Journal of Medical Genetics (2004)

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6

Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: A retrospective survey of 30 cases

by Goldenberg, Alice, Wolf, Claude, Chevy, Fran�oise, Benachi, Alexandra, Dumez, Yves, Munnich, Arnold, Cormier-Daire, Val�rie
Published in American Journal of Medical Genetics (2004)

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7

Growth hormone deficiency (GHD): A new association in Peters' plus syndrome (PPS)

by Lee, Kuk-Wha, Lee, Phillip D. K.
Published in American Journal of Medical Genetics (2004)

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8

Impact ofBRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer

by van Roosmalen, Mari�lle S., Stalmeier, P.F.M., Verhoef, L.C.G., Hoekstra-Weebers, J.E.H.M., Oosterwijk, J.C., Hoogerbrugge, N., Moog, U., van Daal, W.A.J.
Published in American Journal of Medical Genetics (2004)

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9

Hypothyroidism in Down syndrome: Screening guidelines and testing methodology

by Hardy, Olga, Worley, Gordon, Lee, Mary M., Chaing, Shu, Mackey, Joanne, Crissman, Blythe, Kishnani, Priya Sunil
Published in American Journal of Medical Genetics (2004)

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10

Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities

by Baidas, Said, Chen, T-J., Kolev, Valentin, Wong, Lee-Jun, Imholte, Joel, Qin, Naigeng, Meck, Jeanne
Published in American Journal of Medical Genetics (2004)

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11

New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): A risk factor for spina bifida acting in mothers during pregnancy?

by Johnson, William G., Stenroos, Edward S., Spychala, John R., Chatkupt, Sansnee, Ming, Sue X., Buyske, Steven
Published in American Journal of Medical Genetics (2004)

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12

Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness

by Shalev, Stavit A., Hujirat, Yasir
Published in American Journal of Medical Genetics (2004)

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13

Fryns syndrome: A review of the phenotype and diagnostic guidelines

by Slavotinek, Anne M.
Published in American Journal of Medical Genetics (2004)

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14

An investigation of the disclosure process and support needs ofBRCA1 andBRCA2 carriers

by Segal, Jordana, Esplen, Mary Jane, Toner, Brenda, Baedorf, Sylvia, Narod, Steven, Butler, Kate
Published in American Journal of Medical Genetics (2004)

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15

Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family

by Shamseddine, A., Taher, A., Fakhani, S., Zhang, M., Scott, C. Ronald, Habbal, M.Z.
Published in American Journal of Medical Genetics (2004)

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16

Mitotic index in down's syndrome with and without dementia

by Jenkins, Edmund C., Ye, Lingling, Li, Shuyun, Zigman, Warren B., Schupf, Nicole, Sersen, Eugene A., Zhong, Nan, Miezejeski, Charles M., Brooks, Susan Sklower, Silverman, Wayne P.
Published in American Journal of Medical Genetics (2004)

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17

Limb deficiency defects,MSX1, and exposure to tobacco smoke

by Carmichael, Suzan L., Shaw, Gary M., Yang, Wei, Lammer, Edward J., Zhu, Huiping, Finnell, Richard H.
Published in American Journal of Medical Genetics (2004)

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18

Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome

by He, Jie, McDermott, Deborah A., Song, Yan, Gilbert, Fred, Kligman, Isaac, Basson, Craig T.
Published in American Journal of Medical Genetics (2004)

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19

Neu-Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review

by Manning, Melanie A., Cunniff, Christopher M., Colby, Christopher E., El-Sayed, Yasser Y., Hoyme, H. Eugene
Published in American Journal of Medical Genetics (2004)

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20

Goethe's bone and the beginnings of morphology

by Opitz, John M.
Published in American Journal of Medical Genetics (2004)

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