Search Results

Distal Trisomy of 10q with Distal Monosomy of 15q Due to a Paternal Translocation

Authors: Sun, S.C.; Luo, F.W.; Song, H.W.; He, J.B.; Peng, Y.S.

Source: The Journal of International Medical Research, Volume 37, Number 4, July 2009 , pp. 1230-1237(8)

Publisher: Field House Publishing

Copy number variations in three children with sudden infant death

Authors: Toruner; Kurvathi; Sugalski; Shulman; Twersky; Pearson; Tozzi; Schwalb; Wallerstein

Source: Clinical Genetics, Volume 76, Number 1, July 2009 , pp. 63-68(6)

Publisher: Blackwell Publishing

Meiotic segregation of X-autosome translocation in two carriers and implications for assisted reproduction

Authors: Perrin, Aurore; Vialard, François; Douet-Guilbert, Nathalie; Gomes, Denise Molina; Guthauser, Bruno; De Braekeleer, Marc; Selva, Jacqueline; Morel, Frédéric

Source: Reproductive BioMedicine Online, Volume 18, Number 6, June 2009 , pp. 850-855(6)

Publisher: Reproductive Healthcare Ltd

Hypergonadotropic hypogonadism in a patient with inv ins (2;4)

Authors: Tzschach, A.; Ramel, C.; Kron, A.; Seipel, B.; Wüster, C.; Cordes, U.; Liehr, T.; Hoeltzenbein, M.; Menzel, C.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V.; Decker, J.; Steinberger, D.

Source: International Journal of Andrology, Volume 32, Number 3, June 2009 , pp. 226-230(5)

Publisher: Blackwell Publishing

Calcium depletion and calmodulin inhibition affect the import of nuclear-encoded proteins into plant mitochondria

Authors: Kuhn, Sabine; Bussemer, Johanna; Chigri, Fatima; Vothknecht, Ute C.

Source: The Plant Journal, Volume 58, Number 4, May 2009 , pp. 694-705(12)

Publisher: Blackwell Publishing

Assignment of Aegilops variabilis Eig chromosomes and translocations carrying resistance to nematodes in wheat

Authors: Coriton, Olivier; Barloy, Dominique; Huteau, Virginie; Lemoine, Jocelyne; Tanguy, Anne-Marie; Jahier, Joseph

Source: Genome, Volume 52, Number 4, 1 April 2009 , pp. 338-346(9)

Publisher: NRC Research Press

Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman

Authors: Goud, Tadakal Mallana; Mohammed Al Harassi, Salma; Khalfan Al Salmani, Kamla; Mohammed Al Busaidy, Suleiman; Rajab, Anna

Source: Reproductive BioMedicine Online, Volume 18, Number 3, March 2009 , pp. 424-429(6)

Publisher: Reproductive Healthcare Ltd

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

Authors: Tegay; Chan; Leung; Wang; Burkett; Stone; Stanyon; Toriello; Hatchwell

Source: Clinical Genetics, Volume 75, Number 3, March 2009 , pp. 259-264(6)

Publisher: Blackwell Publishing

Hypocalcemia impacts heart failure control in DiGeorge 2 syndrome

Authors: Chao, Pei-Hsin; Chao, Mei-Chyn; Hwang, Kao-Pin; Chung, Mei-Yung

Source: Acta Pædiatrica, Volume 98, Number 1, January 2009 , pp. 195-198(4)

Publisher: Blackwell Publishing

Segregation of chromosomes in sperm of a t(X;18)(q11;p11.1) carrier inherited from his mother: Case Report

Authors: Perrin, A.; Douet-Guilbert, N.; Le Bris, M.J.; Keromnes, G.; Langlois, M.L.; Barrire, P.; Amice, J.; Amice, V.; De Braekeleer, M.; Morel, F.

Source: Human Reproduction, Volume 23, Number 1, 13 January 2008 , pp. 227-230(4)

Publisher: Oxford University Press

Efficacy of array comparative genomic hybridization in a fetus with an inherited apparently balanced translocation: A case report

Authors: Park, Ji Kwon; Lee, Jae Ik; Jo, Hyun Cheol; Shin, Jeong Kyu; Lee, Soon Ae; Lee, Jong Hak; Paik, Won Young

Source: The Journal of Obstetrics and Gynaecology Research, Volume 34, Supplement 1, August 2008 , pp. 653-657(5)

Publisher: Blackwell Publishing

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

Authors: Møller, Rikke S.; Schneider, Lizette M.; Hansen, Christian P.; Bugge, Merete; Ullmann, Reinhard; Tommerup, Niels; Tümer, Zeynep

Source: Epilepsia, Volume 49, Number 6, June 2008 , pp. 1091-1094(4)

Publisher: Blackwell Publishing

Mowat-Wilson syndrome: an underdiagnosed syndrome?

Authors: Engenheiro; Møller; Pinto; Soares; Nikanorova; Carreira; Ullmann; Tommerup; Tümer

Source: Clinical Genetics, Volume 73, Number 6, June 2008 , pp. 579-584(6)

Publisher: Blackwell Publishing

Meiotic segregation analysis in male translocation carriers by using fluorescent in situ hybridization

Authors: Nishikawa, N.; Sato, T.; Suzumori, N.; Sonta, S.; Suzumori, K.

Source: International Journal of Andrology, Volume 31, Number 1, February 2008 , pp. 60-66(7)

Publisher: Blackwell Publishing

Establishment and characterization of the new splenic marginal zone lymphoma-derived cell line UCH1 carrying a complex rearrangement involving t(8;14) and chromosome 3

Authors: Matsuhashi, Yoshiko; Tasaka, Taizo; Kakazu, Naoki; Nagai, Masami; Sadahira, Ken; Nishida, Kazuhiro; Taniwaki, Masafumi; Abe, Tatsuo; Ishida, Toshihiko

Source: Leukemia and Lymphoma, Volume 48, Number 4, April 2007 , pp. 767-773(7)

Publisher: Informa Healthcare

Two Novel Deletions (Array CGH Findings) in Pigment Dispersion Syndrome

Authors: Mikelsaar, Ruth; Molder, Harras; Bartsch, Oliver; Punab, Margus

Source: Ophthalmic Genetics, Volume 28, Number 4, October 2007 , pp. 216-219(4)

Publisher: Informa Healthcare

The role of lipids in the biogenesis of integral membrane proteins

Authors: Schneiter, Roger; Toulmay, Alexandre

Source: Applied Microbiology and Biotechnology, Volume 73, Number 6, January 2007 , pp. 1224-1232(9)

Publisher: Springer

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

Authors: Engenheiro; Saraiva; Carreira; Ramos; Ropers; Silva; Tommerup; Tümer

Source: Clinical Genetics, Volume 72, Number 5, November 2007 , pp. 464-470(7)

Publisher: Blackwell Publishing

Pregnancy following oocyte donation in a woman with Noonan's syndrome and a balanced Robertsonian translocation a case report

Authors: Engemise, Samuel; Croucher, Carolyn

Source: Archives of Gynecology and Obstetrics, Volume 276, Number 2, August 2007 , pp. 185-187(3)

Publisher: Springer

Experimental radiotherapy-induced enteritis: A probiotic interventional study

Authors: Seal, MG; Naito, Y; Barreto, R; Lorenzetti, A; Safran, P; Marotta, F

Source: Chinese Journal of Digestive Diseases, Volume 8, Number 3, August 2007 , pp. 143-147(5)

Publisher: Blackwell Publishing