Results 51 to 60 of about 3,111 (197)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 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

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

Zinc Deficiency Disrupts Germ Cell Nest Breakdown During In Vitro Ovary Culture

Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.
ABSTRACT In mammals, the size of the non‐renewable primordial follicle pool is established before or soon after birth. Primordial follicles, each composed of a single oocyte surrounded by somatic cells, are the only source of gametes during the entire reproductive lifespan of the female.
James M. Hester, Suzanne M. Getman, Melissa E. Pepling, Francisco J. Diaz   +3 more
wiley   +1 more source

Developmental dyslexia: Genetic dissection of a complex cognitive trait [PDF]

, 2002
Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders.
DeFries, J., Fisher, S.
core   +2 more sources

Whistling face (Freeman-Sheldon) syndrome in two siblings

The Turkish Journal of Pediatrics, 1994
Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small
N Bekir, Z Bayraktaroğlu, Y Coşkun, C Karaaslan   +3 more
doaj  

Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report

Journal of Clinical and Translational Endocrinology Case Reports, 2020
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is an extremely rare genetic developmental condition, with hallmark findings of ocular malformation. It has two subtypes, both of which include the eponymous oculofacial features.
Sabiha Banu, Abdul Aziz, Salman Kirmani, Sarah Nadeem   +3 more
doaj   +1 more source

Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree [PDF]

, 2010
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder. We report this condition affecting 4 members of a Pakistani family across three generations.
Ahmad, Khabir, Chaudhry, Tanveer Anjum, Khalid, Mirza Umair, Saleem, Taimur   +3 more
core   +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, Volume 197, Issue 10, October 2025.
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

Michels syndrome: The first case report from India and review of literature

Indian Journal of Ophthalmology, 2014
A 2-year 7-month-old girl born out of a consanguineous marriage, presented at our facility with clinical features characterized by the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus in association with hypertelorism, cleft ...
Adedayo A Adio, Ramesh Kekunnaya, Lokesh Lingappa   +2 more
doaj   +1 more source