Results 131 to 140 of about 24,692 (232)

Prenatal Diagnosis of Paternal Uniparental Isodisomy 14 Arising From the Transfer of a Mosaic Monosomy 14 Embryo. [PDF]

Cureus
Minick J, Lende M.
europepmc   +1 more source

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling. [PDF]

Hum Reprod
Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok MJ, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel CTRM, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders CEM, Paulussen ADC.   +19 more
europepmc   +1 more source

Preventing transmission of dyschromatosis universalis hereditaria through preimplantation genetic testing: A case report. [PDF]

World J Clin Cases
Wang XL, Zou T, Wu YC, Weng YY, Yao Q, Sun WW.   +5 more
europepmc   +1 more source

Crouzon syndrome: preimplantation genetic testing for a familial case with a whole and a mosaic variant of the disease. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Soloveva EV, Skleimova MM, Minaycheva LI, Garaeva AF, Bakulina EM, Ladygina EA, Kanbekova OR, Seitova GN.   +7 more
europepmc   +1 more source

Identification of a KRT9 gene variant and preimplantation genetic diagnosis in a Chinese family with KRT9-palmoplantar epidermal differentiation disorder. [PDF]

Hereditas
Lin D, Lin N, Zhou Y, Li Q, Ma Y.
europepmc   +1 more source

Imagining and Preventing the Future Existence of Bodies with Variations in Sex Characteristics. [PDF]

Arch Sex Behav
Meoded Danon L, Paperna T, Daum H, Zuckerman S.   +3 more
europepmc   +1 more source

Prevalence of anxiety and depression among female patients awaiting pre-implantation genetic diagnosis in a Saudi Arabian tertiary hospital. [PDF]

Saudi Med J
AlOtaibi AS, AlShamlan NA, AlSubki LA, Altuwaigri LO, Awan SA, Farooq D, Saydo BA, Farhan HF, Samhan LM, Yaseen LM, Awartani KA.   +10 more
europepmc   +1 more source

Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses. [PDF]

Hum Reprod
Schadwell A, Whiting O, Xanthopoulou L, Colls P, Bakosi E, Goodall NN, Ribustello L, Ellis P, Gordon T, Griffin DK.   +9 more
europepmc   +1 more source

Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam

The Application of Clinical Genetics
Trieu Tien Sang,1 Khoa Tran Van,1 Nguyen Thanh Tung,2 Phong Nguyen Van,1 Phuong Tran Hoang3 1Department of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, 10000, Vietnam; 2Military Institute of Clinical Embryology and ...
Tung NT, Sang TT, Khoa TV, Phong NV, Phuong TH   +4 more
doaj  

When 25% Feels Like 100%: Confronting Recurrent Cystic Fibrosis Risk Across Consecutive Pregnancies. [PDF]

Cureus
Dasgupta S, Datta D, Pal S, Ghosh K, Sett S.   +4 more
europepmc   +1 more source