Results 181 to 190 of about 152,200 (329)

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Multiple regions of chromosome 6q affected by loss of heterozygosity in primary human breast carcinomas [PDF]

, 1996
Zong‐Mei Sheng, A. Marchetti, Fiamma Buttitta, M.H. Champème, Daniela Campani, M Bistocchi, Rosette Lidereau, Robert Callahan   +7 more
openalex   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma. [PDF]

Int J Mol Sci, 2022
Pastorino L, Dalmasso B, Allavena E, Vanni I, Ugolini F, Baroni G, Croce M, Guadagno A, Cabiddu F, Andreotti V, Bruno W, Zoppoli G, Ferrando L, Tanda ET, Spagnolo F, Menin C, Gangemi R, Massi D, Ghiorzo P.   +18 more
europepmc   +1 more source

Genome-wide search for loss of heterozygosity in transgenic mouse tumors reveals candidate tumor suppressor genes on chromosomes 9 and 16.

, 1994
William F. Dietrich, Eric H. Radany, Jennifer S. Smith, J. Michael Bishop, Douglas Hanahan, Eric S. Lander   +5 more
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Evolution of loss of heterozygosity patterns in hybrid genomes of Candida yeast pathogens. [PDF]

BMC Biol, 2023
Mixão V, Nunez-Rodriguez JC, Del Olmo V, Ksiezopolska E, Saus E, Boekhout T, Gacser A, Gabaldón T.   +7 more
europepmc   +1 more source

Loss of expression and loss of heterozygosity in the DCC gene in neoplasms of the human female reproductive tract [PDF]

, 1995
Takayuki Enomoto, Masami Fujita, Chi‐Fung Cheng, R Nakashima, Makoto Ozaki, Machiko Inoue, Taisei Nomura   +6 more
openalex   +1 more source

Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis [PDF]

, 1998
Teresa A. Smolarek, Lisa L. Wessner, Francis X. McCormack, Johanna C. Mylet, Anil G. Menon, Elizabeth P. Henske   +5 more
openalex   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source