Results 61 to 70 of about 2,046,767 (198)

Treosulfan–fludarabine conditioning in infants with severe combined immunodeficiencies: Extended study of the UK paediatric treosulfan study

British Journal of Haematology, Volume 208, Issue 5, Page 1713-1723, May 2026.
Summary Allogeneic haematopoietic stem cell transplantation (HSCT) is a curative therapy for severe combined immunodeficiency (SCID). Conditioning improves donor engraftment and freedom from immunoglobulin replacement (IgR) but increases the risks of acute and late toxicity. Treosulfan, a reduced toxicity alkylating agent, has emerged as an alternative
Su Han Lum, Sinéad Greener, Irum Latif Memon, Persis Amrolia, Zohreh Nademi, Robert Chiesa, Juliana Silva, Helen Young, Stephen Owens, Eleri Williams, Khuen Foong Ng, Terry Flood, Andrew R Gennery, Sophie Hambleton, Kanchan Rao, Mary Slatter   +15 more
wiley   +1 more source

Mixed gonadal dysgenesis with normal karyotype : A rare case report

Indian Journal of Pathology and Microbiology, 2010
Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures.
Anand Ajay, Gupta Narmada, Singh M, Mathur Sandeep, Nayyar Rishi   +4 more
doaj  

A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis

, 2012
SRY, located on the Y chromosome, is one of the key genes involved in human sex determination. SRY mutations are responsible for 10-15% of all cases of 46,XY gonadal dysgenesis (GD) but are rarely implicated in the pathogenesis of mixed ...
Birraux, Jacques Maurice, Morel, Yves, Klee, Philippe, Dahoun, Sophie, Dirlewanger, Mijam, Girardin, Céline, Plotton, Ingrid, Rougemont-Pidoux, Anne-Laure, Bena, Frédérique, Schwitzgebel Luscher, Valérie, Plotton I, Béna F, Girardin C, Dahoun S, Klee P, Schwitzgebel VM, Morel Y, Dirlewanger M, Rougemont AL, Birraux J   +19 more
core   +1 more source

gonadal dysgenesis

, 2021
Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been ...
Nathalie Escande‐Beillard, Escande-Beillard, Nathalie, Shalini S. Nayak, Katta Mohan Girisha, Serpil Eraslan, Hülya Kayserili, Ledig, Susanne, Girisha, Katta Mohan, Susanne Ledig, Azakli, Hulya, Anju Shukla, Umut Altunoglu, Eraslan, Serpil, Shukla, Anju, Esra Börklü, Borklu, Esra, Kennerknecht, Ingo, Ingo Kennerknecht, Nayak, Shalini S., Altunoglu, Umut, Hülya Azaklı, Kayserili, Hulya   +21 more
core   +1 more source

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory

Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li   +5 more
wiley   +1 more source

Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis

, 2023
Introduction: 46,XY gonadal dysgenesis is a condition that is characterised by undeveloped testes in individuals with a male karyotype. Mutations in many genes that underlie this condition have been identified; however, there are still a considerable ...
Gorodna, Olexandra, Sirokha, Dmytro, Samson, Oksana, Livshits, Ludmila, Kalynovskyi, Vitalii, Kwiatkowska, Krystyna, Kusz-Zamelczyk, Kamila, Jaruzelska, Jadwiga, Zelinska, Nataliya, Nef, Serge, Rayevsky, Alexey   +10 more
core   +1 more source

Advances in non‐germ cell tumours of the testis: focus on new molecular developments in sex cord‐stromal tumours

Histopathology, Volume 88, Issue 1, Page 230-251, January 2026.
In this review, we summarise the major recent advances in Testicular Sex Cord‐Stromal Tumours, focusing on molecular alterations and biomarkers relevant for diagnosis, classification and prognosis. Testicular sex cord‐stromal tumours (TSCSTs) represent ~4%–8% of all testicular neoplasms.
João Lobo, Andres M Acosta
wiley   +1 more source

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

International Journal of Endocrinology, 2016
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center.
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior   +21 more
doaj   +1 more source

Mixed gonadal dysgenesis with plasty in males [PDF]

, 1989
A 13-year-old Korean boy is reported here as a case of mixed gonadal dysgenesis. The patient presented with perineal hypospadia. He had scrotal testis, epididymis, vas deferens on right side, and abdominal streak gonad, Fallopian tube on left side.
細見, 昌弘, 岡, 聖次, 倉田, 明彦, 高羽, 津, 松宮, 清美, 三宅, 修   +5 more
core  

Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis

, 2011
Patients with XY gonadal dysgenesis are at increased risk of developing gonadal tumors. The etiology of several cases of XY gonadal dysgenesis remains unknown, but X/XY gonadal mosaicism has been hypothesized to play a role.
Nicole Lemieux, Pierre Brochu, Mélanie Beaulieu Bergeron   +2 more
core   +1 more source