Results 211 to 220 of about 3,786,126 (364)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Expanding the phenotypic spectrum of Beaulieu-Boycott-Innes syndrome: A case report of a novel THOC6 gene mutation associated with ambiguous genitalia and disorders of sexual development. [PDF]

Medicine (Baltimore)
Humeedat M, Jabareen M, Maraqa B, Sarahneh H, Manasra N.   +4 more
europepmc   +1 more source

Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder

, 2001
Takuya Saito, Feifei Guan, Demitri F. Papolos, Stephanie Lau, Marjorie H. Klein, Cathy S.J. Fann, Herbert M. Lachman   +6 more
openalex   +1 more source

Pleiotropic Effects of a Chromosome 3 Locus on Speech-Sound Disorder and Reading [PDF]

, 2004
Catherine M. Stein, James H. Schick, H. Gerry Taylor, Lawrence D. Shriberg, Christopher J. Millard, Amy Kundtz-Kluge, Karlie Russo, Nori Minich, Amy J. Hansen, Lisa Freebairn, Robert C. Elston, Barbara Lewis, Sudha K. Iyengar   +12 more
openalex   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Aurea Mediocritas: mTOR Abides the Golden Mean. [PDF]

Epilepsy Curr
Riley VA, Danzer SC.
europepmc   +1 more source

Thyroid Fetal Male Microchimerisms in Mothers with Thyroid Disorders: Presence of Y-Chromosomal Immunofluorescence in Thyroid-Infiltrating Lymphocytes Is More Prevalent in Hashimoto’s Thyroiditis and Graves’ Disease Than in Follicular Adenomas [PDF]

, 2004
Christoph Renné, Elizabeth Ramos López, Susanne Annette Steimle‐Grauer, Piotr Ziółkowski, Michael A. Pani, Christina Luther, Katharina Holzer, A. Encke, Robert A. Wahl, Wolf O. Bechstein, K. H. Usadel, Martin‐Leo Hansmann, Klaus Badenhoop   +12 more
openalex   +1 more source

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders. [PDF]

Front Genet
Mellone S, Spano A, Vurchio D, Borgonovi G, Ugonotti A, Paglino G, Bianco A, Ronzani S, Sciancalepore M, Prodam F, Papa A, Viri M, Dianzani U, Giordano M.   +13 more
europepmc   +1 more source

Genome‐wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: Fine mapping adds support on chromosomes 6 and 11 [PDF]

, 2004
Carlos N. Pato, Michele T. Pato, Andrew Kirby, Tracey L. Petryshen, Helena Medeiros, Célia Barreto Carvalho, A. Macedo, A. Dourado, I. Coelho, J. Valente, M.J. Soares, Carlos Paz Ferreira, M. Lei, Andrei Verner, Thomas J. Hudson, Christopher P. Morley, James L. Kennedy, Maria Helena Pinto de Azevedo, Mark J. Daly, Pamela Sklar   +19 more
openalex   +1 more source