Results 91 to 100 of about 76,951 (280)

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]

, 2013
The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
core   +2 more sources

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Recurrent deletions of ULK4 in schizophrenia : a gene crucial for neuritogenesis and neuronal motility [PDF]

, 2013
Peer reviewedPublisher ...
Blackwood, Douglas H, Gao, Guo-Dong, Guan, Zhen-Long, He, Guang, He, Lin, Hunter, Irene, Lang, Bing, Li, Wei-Dong, Liu, Min, Martin-Granados, Christina, McCaig, Colin D, Pu, Jin, Reilly, Thomas J, Shen, Sanbing, Shi, Yong-Yong, St Clair, David, Stefansson, Hreinn   +16 more
core   +1 more source

Minimally invasive management of large seminal vesicle cyst in Zinner syndrome: Laser ablation for urinary retention

UroPrecision, EarlyView.
Abstract Background In Zinner syndrome (ZS), surgical intervention is recommended for pediatric patients with symptomatic disease. It is generally believed that cyst aspiration alone may lead to symptom recurrence. Although comprehensive surgical excision is often advocated to prevent recurrence, a combined approach of cyst aspiration and maximal cyst ...
Muhammed Arif Ibis, Zafer Tokatlı, Araz Musaev, Tarkan Soygür   +3 more
wiley   +1 more source

The prevalence of the palmaris longus muscle's agensis in Hungarian students [PDF]

, 2013
The Palmaris longus muscle (PLM) is a slender, fusiform muscle which lies on the flexor surface of the forearm. Its agenesis is considered the most frequent anatomic variation in the muscular system of the human body. The PLM has little functional use to
Barkats, Norbert
core   +3 more sources

Vaginal endometriosis following uterine transplantation in a patient with Mayer–Rokitansky–Küster–Hauser syndrome: A unique case report

International Journal of Gynecology &Obstetrics, EarlyView.
Jana Moravcova, Roman Chmel, Jana Maluskova, Eva Sticova   +3 more
wiley   +1 more source

Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020

Andrology, EarlyView.
Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu, Gao Yuyang, Xu Wenli, Li Wenyan, Liu Zhen, Zhou Jiayuan, Zhu Jun, Dai Li   +7 more
wiley   +1 more source

Genetic regulation of pituitary gland development in human and mouse [PDF]

, 2009
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Aarskog, Acampora, Agarwal, Aijaz, Alba, Ambrosetti, Ambrosetti, Andersen, Andersen, Andersen, Andoniadou, Arroyo, Asteria, Avilion, Bach, Bakrania, Bao, Barnhart, Bartke, Bartke, Bhangoo, Bhati, Bilodeau, Blankenstein, Bodner, Boncinelli, Bonnefont, Böttner, Briata, Brickman, Brinkmeier, Brinkmeier, Brown, Brown, Cai, Carvalho, Castinetti, Cattanach, Cha, Charles, Charles, Chassaing, Chatelain, Chen, Chou, Christian, Cogan, Cohen, Cohen, Cohen, Cohen, Corneli, Couly, Couly, Coya, Cushman, Cushman, Daikoku, Daniel Kelberman, Dasen, Dasen, Dateki, Dattani, Davis, De Moerlooze, de Zegher, Deladoëy, Diaczok, Dodé, Douglas, Driever, Drouin, Duquesnoy, Dutta, Ellsworth, Ericson, Ezzat, Faivre, Falardeau, Fantes, Fauquier, Ferrand, Ferri, Flück, Fofanova, Fofanova, Fofanova, Gage, Gage, Gage, Gage, Gaston-Massuet, Gat-Yablonski, Gat-Yablonski, Gleiberman, Gleiberman, Gordon, Granger, Guichet, Hagstrom, Hamel, Hashimoto, Hayward, Hendriks-Stegeman, Hermesz, Hertzano, Himes, Hol, Holl, Hökfelt, Huang, Hui, Hume, Iain C. A. F. Robinson, Idrees, Ikeda, Ingraham, Irie, Japón, Jean, Kan, Karine Rizzoti, Kawamura, Kawamura, Kelberman, Kelberman, Kelberman, Kimura, Kioussi, Kishimoto, Kita, Kitamura, Kouki, Kriström, Kurokawa, Kurokawa, Lagerström-Fermér, Lamolet, Lamonerie, Lanctôt, Lanctôt, Laumonnier, Le Tissier, Lebl, Lemos, Li, Li, Li, Li, Lim, Lin, Lin, Lindsay, Liu, Lourenço, López-Ríos, Lu, Luo, Machinis, Machinis, Malvagia, Mansukhani, Martinez-Barbera, McGillivray, McLennan, McNay, Mehul T. Dattani, Mendonca, Metherell, Miyata, Morceau, Murray, Naiche, Nasonkin, Netchine, Ngan, Nolen, Norlin, Nose, Nudi, Ohta, Ohuchi, Okamoto, Olson, Olson, Osorio, Osumi-Yamashita, Pabst, Paracchini, Parkin, Parks, Patel, Pellegrini-Bouiller, Pernasetti, Pernasetti, Pfaeffle, Pfaeffle, Pfaffle, Pfäffle, Phillips 3rd, Pitteloud, Pogoda, Potok, Poulin, Pulichino, Pulichino, Qi, Quentien, Radovick, Raetzman, Raetzman, Raetzman, Ragge, Ragge, Rainbow, Rajab, Raverot, Rayapureddi, Reynaud, Reynaud, Rhinn, Rhodes, Rhodes, Riepe, Rizzoti, Rizzoti, Rizzoti, Robin Lovell-Badge, Rodrigues Martineli, Roessler, Roessler, Rubenstein, Sadovsky, Sajedi, Sajedi, Salemi, Salisbury, Sato, Savage, Scaffidi, Semina, Semina, Semina, Sheng, Sheng, Sheng, Sheng, Shinkai, Shinoda, Simmons, Sisodiya, Sloop, Sloop, Sloop, Snabboon, Sobrier, Sobrier, Sobrier, Sornson, Stahl, Steger, Suh, Sun, Susa, Szeto, Szeto, Tajima, Tajima, Tajima, Takuma, Tang, Tatsumi, Tatsumi, Thomas, Thomas, Thomas, Thomas, Tierney, Tootle, Treier, Treier, Tremblay, Tremblay, Tremblay, Tremblay, Tsai, Turton, Turton, Urs, Vallette-Kasic, Vallette-Kasic, Vesper, Vieira, Vieira, Vimpani, Voutetakis, Voutetakis, Wales, Ward, Ward, Ward, Watanabe, Watanabe, Weintrob, Weiss, West, Williamson, Winnier, Wit, Wood, Woods, Wu, Wyatt, Xu, Yamada, Zenteno, Zhang, Zhao, Zhao, Zhu, Zhu, Zorn   +321 more
core   +2 more sources

Fibroids in obstructed hemivagina and ipsilateral renal anomaly‐like syndrome: Successful hysterectomy and vaginal septoplasty in a kidney transplant recipient with uterus didelphys, vaginal septum and renal agenesis

International Journal of Gynecology &Obstetrics, EarlyView.
Mariana Correia Moreira Cruz, Sophia Helena Batalha, Vitor Matheus Silva, Marcos de Lorenzo Messina, José Maria Soares Junior, Edmund Chada Baracat   +5 more
wiley   +1 more source