Results 81 to 90 of about 3,428 (220)

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome [PDF]

, 2006
Arterial tortuosity syndrome (ATS) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall1 ...
Barlati S, Callewaert B, Colombi M, Coucke PJ, De Backer J, De Paepe A, Dietz HC, Facchetti F, Forsyth R, Fox JE, Gardella R, Kambouris M, Loeys B, Mancini GM, Wessels MW, Willaert A, Willems PJ, Zoppi N   +17 more
core   +1 more source

Cancer in pregnancy: FIGO Best practice advice and narrative review

International Journal of Gynecology &Obstetrics, Volume 171, Issue 1, Page 131-151, October 2025.
Abstract Cancer during pregnancy is relatively rare. The incidence is underestimated due to the lack of international registries covering both high‐income and low‐ and middle‐income countries, and is expected to rise with increasing maternal age and increasing global adoption of cell‐free DNA testing for aneuploidy.
Surabhi Nanda, Melanie Nana, Long Nguyen‐Hoang, Sumaiya Adam, Fionnuala McAuliffe, Lina Bergman, Sarikapan Wilailak, Orla McNally, Cynthia V. Maxwell, Nikhil Purandare, Bo Jacobsson, Virna P. Medina, Anil Kapur, Titus Beyuo, Francisco Ruiloba, Ernesto Castelazo, Graeme N. Smith, Sharleen L. O'Reilly, Patrick O'Brien, Mark Hanson, Mary L. Rosser, Claudio Sosa, Valerie Guinto, Jonathan Berek, Catherine Nelson‐Piercy, Frédéric Amant, Liona Poon, on behalf of the FIGO Committee on the Impact of Pregnancy on Long‐term Health, FIGO Committee on Women's Cancer, and the FIGO Division of Maternal and Newborn Health   +29 more
wiley   +1 more source

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients [PDF]

, 2015
International audienceBackground: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies.
A Caliebe, A Cooke, A Khan, A Rauch, A Verloes, Ali Fawaz, AM Haqq, André Mégarbané, BC Ballif, BWM Bon Van, C Rehder, CB Mankinen, Cecile Mignon-Ravix, DE Rooney, DF Callen, DJ McMullan, DT Miller, E Chouery, E Natt, E Natt, Eliane Chouery, GS Sagoo, J Carayol, JK Inlow, JL Merritt 2nd, Joelle Abou Ghoch, K Buysse, K Scior, K Shimojima, L Rodríguez-Revenga, Laurent Villard, M Azar, M Fujiwara, M Irving, M Poot, M Shoukier, N Roeleveld, Nabiha Salem, Nadine Jalkh, Nancy Choucair, ND Miller, Pierre Cacciagli, R Chitkara, RE Straub, S Edelhoff, SA Yatsenko, Sandra Corbani, Sandra El Sabbagh, T Barøy, T Yamamoto, Tony Ibrahim, V Mardo, Y Qiao, Y-S Fan, Y-T Chang, Z Stark   +55 more
core   +3 more sources

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

A Case with Microphthalmia and Multiple Congenital Anomalies

Türk Oftalmoloji Dergisi, 2013
We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital ...
Ayça Sarı, Erdem Dinç, Olgu Hallıoğlu Kılınç   +2 more
doaj   +1 more source

Premature ovarian failure and ovarian autoimmunity [PDF]

, 1997
Premature ovarian failure (POF) is defined as a syndrome characterized by menopause before the age of 40 yr. The patients suffer from anovulation and hypoestrogenism.
A. Hoek, Aaltonen, Ahonen, Ahonen, Aiman, Allison, Allison, Alper, Alper, Alper, Anasti, Anasti, Atria, Austin, Austyn, Austyn, Austyn, Ayala, Baker, Bannatyne, Batchelor, Bateman, Baumann-Antczak, Behrman, Belvisi, Betterle, Betz, Biddison, Bierer, Biscotti, Blizzard, Block, Blumenfeld, Board, Bohmig, Borst, Bottazzo, Bottazzo, Bottazzo, Brenner, Brenner, Burton, Byrne, Cameron, Campbell, Caux, Chamberlin, Charlton, Chen, Chiauzzi, Colle, Collen, Collins, Cooper, Corenblum, Costoff, Coulam, Coulam, Coulam, Coulam, Coulam, Coulam, Coulam, Cowchock, Dahl, Damewood, Damjanovic, Damjanovic, Day, de Moraes-Ruehsen, de Moraes-Ruehsen, Dean, DeGroot, Dewhurst, Duignan, d’Andrea, Edmonds, Elder, Emperaire, Emperaire, Epplen, Escobar, Falk, Falk, Fitch, Fitzgerald, Flechner, Fraser, Fraser, Freudenthal, Friedman, Friedman Cl Gurgen-Varol, Furmaniak, Germain, Gloor, Golonka, Goodnow, Green, Greenberger, Greiner, Griffin Jr, H. A. Drexhage, Hanafusa, Harding, Hart, Hart, Hart, Heller, Hens, Herberman, Hill, Ho, Ho, Hoek, Hoek, Horning, Inaba, Irvine, Irvine, Ivanova, Iwatani, J. Schoemaker, Jackson, Jackson, Jankovic, Jansen, Jaroudi, Jaszmann, Jeppsson, Jia, Jin, Johnson, Jones, June, Kabel, Kamada, Kamperdijk, Kappler, Kaufman, Kiessling, Kim, Kimura, Kinch, Koninckx, Krailo, Krauss, Krawinkel, Kroemer, Krohn, Kuki, Labarbera, Lanier, Lanier, Le Floch, Leder, Leenen, Leibovich, Linsley, Lonsdale, Lou, Luborsky, Lundberg, Luo, Many, Marazuela, Marrack, Mathur, Mathur, Mattison, Maxson, McNatty, Meeker, Menon, Meuer, Mignot, Mignot, Milgrom, Miller, Miller, Miyake, Miyake, Mohler, Monaco, Moncayo, Moncayo, Moncayo-Naveda, Moore, Morahan, Morrison, Mosmann, Moss, Muechler, Mueller, Muir, Munoz, Munro Neville, Murphy, Myers, Nagler, Neefjes, Nelson, Nelson, Norton, Nossal, Oettgen, Panidis, Parker, Pekonen, Perussia, Philip, Pierce, Plunkett, Podack, Powrie, Prickett, Prinz, Pure, Quill, Rabinowe, Rabinowe, Rabinowe, Rebar, Rebar, Rhim, Rock, Romagnani, Royer, Rudensky AYu Preston-Hulburt, Russell, Sakaguchi, Sakaguchi, Sakaguchi, Sakaguchi, Schreiber, Schwartz, Scott, Seaman, Sedmak, Sele, Serreze, Shangold, Sharf, Shimizu, Singh, Skinner, Sluss, Smith, Smith, Smith, Smith, Song, Sotsiou, Starup, Starup, Steinman, Strominger, Suda, Taguchi, Taguchi, Taguchi, Tang, Tas, Teh, Teunissen, Theofilopoulos, Tilly, Todd, Tonegawa, Townsend, Trinchieri, Trunca, Tsirigotis, Tung, Turkington, Uibo, Uibo, Vakkila, Vallotton, van Dongen, van Ewijk, van Furth, van Voorhis, van Weissenbruch, Velloso, Villanueva, Volpe, Voorbij, Voorbij, Walfish, Walsh, Wardell, Warne Gl Fairley, Waxman, Weetman, Wheatcroft, Whitehead, Wick, Wick, Wick, Williamson, Winqvist, Winqvist, Winqvist, Witmer, Wolfe, Wolffenbuttel, Wood, Wright, Wulffraat, Yamakawa, Yen, Yoon, Yuan, Zarate, Zarate, Zourlas   +315 more
core   +3 more sources

De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analysis

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
This study describes a girl with DEE, in whom WGS identified candidate variants in HNRNPU, NIPBL, and KANSL1, with only the de novo HNRNPU variant being causative, while the inherited KANSL1 variant, located in a non‐functional duplicated locus, did not contribute to the phenotype.
Daria Akimova, Daria Guseva, Maria Nefedova, Mikhail Skoblov   +3 more
wiley   +1 more source

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Case Reports in Genetics, 2011
We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH).
Diana C. Darcy, Scott Rosenthal, Robert J. Wallerstein   +2 more
doaj   +1 more source

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family

Journal of the ASEAN Federation of Endocrine Societies, 2017
Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF).
Abhinav Kumar Gupta, Deepak Chand Gupta, Saqib Ahmad Khan, Syed Mohd Razi   +3 more
doaj