The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients
Bernstein-Molho, Rinat, Barnes-Kedar, Inbal, Ludman, Mark D., Reznik, Gili, Feldman, Hagit Baris, Samra, Nadra Nasser, Eilat, Avital, Peretz, Tamar, Peretz, Lilach Peled, Shapira, Tamar, Magal, Nurit, Kalis, Marina Lifshitc, Yerushalmi, Rinat, Vinkler, Chana, Liberman, Sari, Basel-Salmon, Lina, Shohat, Mordechai, Levy-Lahad, Ephrat, Friedman, Eitan, Bazak, Lily, Goldberg, Yael
Published in Breast cancer research and treatment (01.11.2019)
Published in Breast cancer research and treatment (01.11.2019)
Get full text
Journal Article
RFT1 deficiency in three novel CDG patients
Vleugels, Wendy, Haeuptle, Micha A, Ng, Bobby G, Michalski, Jean-Claude, Battini, Roberta, Dionisi-Vici, Carlo, Ludman, Mark D, Jaeken, Jaak, Foulquier, François, Freeze, Hudson H, Matthijs, Gert, Hennet, Thierry
Published in Human mutation (01.10.2009)
Published in Human mutation (01.10.2009)
Get full text
Journal Article
Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome
Baris, Hagit N, Kedar, Inbal, Halpern, Gabrielle J, Shohat, Tamy, Magal, Nurit, Ludman, Mark D, Shohat, Mordechai
Published in The Israel Medical Association journal (01.12.2007)
Get full text
Published in The Israel Medical Association journal (01.12.2007)
Journal Article
JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I
Berman, Jason N., Greer, Wenda L., Archambeault, Sophie, Loh, Mignon L., Riddell, Christie, Morash, Barbara, Dumas, Nadine, Fernandez, Conrad V., Ludman, Mark D.
Published in Pediatric Blood & Cancer (01.11.2008)
Published in Pediatric Blood & Cancer (01.11.2008)
Get full text
Journal Article
VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study
Pettman, Rachel K, Crowley, Amy, Riddell, Christie, Ludman, Mark D
Published in Molecular diagnosis & therapy (01.01.2006)
Published in Molecular diagnosis & therapy (01.01.2006)
Get full text
Journal Article
Longitudinal study of the early electroretinographic changes in Alström's syndrome
Tremblay, F, LaRoche, R G, Shea, S E, Ludman, M D
Published in American journal of ophthalmology (15.05.1993)
Published in American journal of ophthalmology (15.05.1993)
Get more information
Journal Article
Familial Platelet Disorder and Predisposition to Myeloid Leukemia (FPD/AML) in the Absence of RUNX1 Mutations- A Report of Three Families
Berman, Jason N., Couban, Stephen, Ebbin, Allan, Frangoul, Haydar, Quisumbing, Maria B., Aikie, Thomas E, Riddell, Christie, Ferguson, Meghan, Ludman, Mark D., Fernandez, Conrad V., Cantor, Alan B.
Published in Blood (20.11.2009)
Published in Blood (20.11.2009)
Get full text
Journal Article
Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants
Nilsson, O, Grabowski, G A, Ludman, M D, Desnick, R J, Svennerholm, L
Published in Clinical genetics (01.05.1985)
Published in Clinical genetics (01.05.1985)
Get more information
Journal Article
Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker
Bauer, Eugene A, Ludman, Mark D, Goldberg, James D, Berkowitz, Richard L, Holbrook, Karen A
Published in Journal of investigative dermatology (01.11.1986)
Published in Journal of investigative dermatology (01.11.1986)
Get full text
Journal Article
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene
Eng, C M, Niehaus, D J, Enriquez, A L, Burgert, T S, Ludman, M D, Desnick, R J
Published in Human molecular genetics (01.10.1994)
Published in Human molecular genetics (01.10.1994)
Get more information
Journal Article
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families
Marshall, J D, Ludman, M D, Shea, S E, Salisbury, S R, Willi, S M, LaRoche, R G, Nishina, P M
Published in American journal of medical genetics (12.12.1997)
Published in American journal of medical genetics (12.12.1997)
Get more information
Journal Article
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene
Coulter-Mackie, M B, Gagnier, L, Beis, M J, Applegarth, D A, Cole, D E, Gordon, K, Ludman, M D
Published in Journal of medical genetics (01.06.1997)
Published in Journal of medical genetics (01.06.1997)
Get full text
Journal Article
Gaucher disease: Fate of the splenic remnant after partial splenectomy—A case of rapid enlargement
Fleshner, Phillip R., Astion, Donna J., Ludman, Mark D., Aufses, Arthur H., Grabowski, Gregory A., Dolgin, Stephen E.
Published in Journal of pediatric surgery (01.06.1989)
Published in Journal of pediatric surgery (01.06.1989)
Get full text
Journal Article