Results 111 to 120 of about 1,059 (257)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Gestación por Sustitución y Licencias por Maternidad/Paternidad. La Agenda de Cuidado a la Luz de la Jurisprudencia Española y la Perspectiva Argentina (Surrogate Motherhood and Maternity / Paternity Leave. The Care Agenda in the Light of the Spanish...)

Oñati Socio-Legal Series, 2015
This paper aims to analyze the new technologies and the ability to access a (co)Maternity / (co)Fatherhood through assisted reproductive technics (ART), including surrogate motherhood, altogether with the issue of the care work and maternity/paternity ...
Agustina Perez
doaj  

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Commercial Surrogacy: An Overview. [PDF]

Rev Bras Ginecol Obstet, 2022
Brandão P, Garrido N.
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Maternal, pregnancy, and neonatal outcomes associated with surrogacy: a scoping review. [PDF]

Reprod Biol Endocrinol
Zaçe D, Pasciuto T, Corrado G, Cavallo CMP, Thiella S, Di Pietro ML.   +5 more
europepmc   +1 more source

Don't Worry About Her; Intersectionality, and the Role of Systems and Structures in the Embodied Experiences of Young Women's Use of Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak, Tamara Blakemore, Elsie Randall, Meaghan Katrak Harris   +3 more
wiley   +1 more source

Surrogacy in Ghana: a qualitative study exploring recruitment processes, eligibility criteria, stigma and postnatal care experiences among surrogate mothers. [PDF]

BMJ Open
Amarteifio DA, Hiadzi RA, Tetteh PM, Boafo IM.   +3 more
europepmc   +1 more source

Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart, Kate Fitz‐Gibbon, Steven Roberts   +2 more
wiley   +1 more source

Case Report: From absolute uterine factor infertility (AUI) to motherhood: the crucial role of psychosocial assessment in the first Italian uterus transplantation case. [PDF]

Front Psychol
Pistorio ML, De Pasquale C, Veroux M, Giaquinta A, Giambra MM, Grasso A, Scollo P, Quattropani MCA, Veroux P.   +8 more
europepmc   +1 more source