All individuals with variants in gene NLRP7

31 entries on 1 page. Showing entries 1 - 31.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00054739 - PubMed: Reddy 2016, Journal: Reddy 2016 - F - Egypt - - - - - HYDM1 reproductive outcome 3 partial hydatidiform moles, several failed assisted reproductive technologies 1 1 Rima Slim
00054740 - PubMed: Reddy 2016, Journal: Reddy 2016 - F - France white - - - - HYDM1 reproductive outcome spontaneous abortion, 2 hydatidiform moles, complete hydatidiform mole developing into gestational trophoblastic neoplasia 2 1 Rima Slim
00054741 - PubMed: Reddy 2016, Journal: Reddy 2016 - F - France white - - - - HYDM1 reproductive outcome blighted ovum, followed by 3 complete hydatidiform moles 2 1 Rima Slim
00054760 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? Iran Persian - - - - HYDM1 reproductive outcome 2 hydatidiform moles, 3 failed assisted reproductive technology attempts, spontaneous abortion 1 1 Rima Slim
00054761 - PubMed: Reddy 2016, Journal: Reddy 2016 2-generation family, affected female with affected sister, unaffected heterozygous carrier parents F ? Egypt Egyptian - - - - HYDM1 reproductive outcome spontaneous abortion, blighted ovum, 4 complete hydatidiform moles 1 2 Rima Slim
00054762 - PubMed: Reddy 2016, Journal: Reddy 2016 sister F ? Egypt Egyptian - - - - HYDM1 reproductive outcome spontaneous abortion, 4 complete hydatidiform moles 1 1 Rima Slim
00054763 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? United States white - - - - HYDM1 reproductive outcomes spontaneous abortion (69,XXX), spontaneous abortion (trisomy 9), spontaneous abortion (45,X), spontaneous abortion (69,XXY, digynic) 1 1 Rima Slim
00054764 - PubMed: Reddy 2016, Journal: Reddy 2016 2-generation family, affected female with affected sister, unaffected heterozygous carrier parents F ? Syria - - - - - HYDM1 reproductive outcome 4 hydatidiform moles, intra-cytoplasmic sperm injection-hydatidiform mole, intra-cytoplasmic sperm injection-hydatidiform mole 1 2 Rima Slim
00054765 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? Turkey - - - - - HYDM1 reproductive outcomes hydatidiform mole, spontaneous abortion, hydatidiform mole, partial hydatidiform mole, spontaneous abortion, hydatidiform mole, partial hydatidiform mole 1 1 Rima Slim
00054766 - PubMed: Reddy 2016, Journal: Reddy 2016 2-generation family, affected female with 2 affected sisters, unaffected heterozygous carrier parents F ? Turkey - - - - - HYDM1 reproductive outcome hydatidiform mole, live birth, hydatidiform mole, live birth 2 3 Rima Slim
00054767 - PubMed: Reddy 2016, Journal: Reddy 2016 2-generation family, affected female with affected sister, unaffected heterozygous carrier parents F ? Iran - - - - - HYDM1 reproductive outcome 3 hydatidiform moles, hydatidiform mole developing into gestational trophoblastic neoplasia, hydatidiform mole 1 2 Rima Slim
00054768 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? Mexico - - - - - HYDM1 reproductive outcomes 3 hydatidiform moles, hydatidiform mole (twins by ultrasound) 2 1 Rima Slim
00054769 - PubMed: Akoury 2015, Journal: Akoury 2015 2-generation family, unaffected heterozygous carrier parents F no India - >27y - - assisted reproductive technology HYDM1 one hydatidiform mole gave gestational trophoblastic neoplasia; assisted reproductive technology, received donated ovum unrelated woman, normal singleton pregnancy, normal live birth (boy) delivered by Caesarean section; boy now 5y3min good health 2 1 Johan den Dunnen
00054770 - PubMed: Akoury 2015, Journal: Akoury 2015 2-generation family, unaffected heterozygous carrier parents F - India - >27y - - assisted reproductive technology HYDM1 assisted reproductive technology, received donated ova for in-vitro fertilization, three embryos transferred, triplet pregnancy, one spontaneously lost, normal live birth twin delivered by Caesarean section; twins now 4y good health 1 1 Johan den Dunnen
00054771 - PubMed: Brown 2013, PubMed: Akoury 2015, Journal: Akoury 2015 - F - - Europe;Afro-Caribbean >24y - - - HYDM1 one complete mole (gestational trophoblastic neoplasia), one partial mole with embryo and fetal crown rump length compatible with gestational age 7w, molar pregnancy non-viable embryo; spontaneous natural conception; delivery 39.5w gestation, healthy boy (APGAR score 9/9) birth weight 3487g, now 1y good health; histopathological evaluation placenta no abnormalities 1 1 Johan den Dunnen
00054772 - PubMed: Slim 2009, PubMed: Akoury 2015, Journal: Akoury 2015 2-generation family, unaffected heterozygous carrier parents F no India - >30y - - - HYDM1 blighted ovum followed by two hydatidiform moles developing gestational trophoblastic neoplasia; spontaneous conception; anti-epileptic medication during uncomplicated pregnancy, live birth 37.5w gestation (pre-labour rupture membranes, fetus in transverse position) emergency C-section (boy, currently healthy, attends nursery school, normal growth and development; placenta no histopathological abnormalities 7 1 Johan den Dunnen
00054773 - PubMed: Reddy 2016, Journal: Reddy 2016 sister 1 F ? Turkey - - - - - HYDM1 reproductive outcomes 2 spontaneous abortions, hydatidiform mole, hydatidiform mole (Dip Bip), spontaneous abortions, hydatidiform mole 2 1 Rima Slim
00054774 - PubMed: Reddy 2016, Journal: Reddy 2016 sister 2 F ? Turkey Turkish - - - - HYDM1 reproductive outcomes hydatidiform mole, hydatidiform mole (Dip Bip), hydatidiform mole (Dip Bip XY*) 2 1 Rima Slim
00054775 - PubMed: Reddy 2016, Journal: Reddy 2016 sister F - Iran - - - - - HYDM1 reproductive outcome 3 hydatidiform moles 1 1 Rima Slim
00054776 - PubMed: Reddy 2016, Journal: Reddy 2016 - F ? Mexico - - - - - HYDM1 reproductive outcomes hydatidiform mole developing into gestational trophoblastic neoplasia, 2 spontaneous abortions, spontaneous abortion (46,XX), 6 spontaneous abortions, partial hydatidiform mole 2 1 Rima Slim
00054779 - PubMed: Reddy 2016, Journal: Reddy 2016 sister F ? Syria - - - - - HYDM1 reproductive outcome 2 hydatidiform moles 1 1 Rima Slim
00094948 - - - F no Germany - - - - - ? - 2 1 Thomas Eggermann
00305554 - - - F no Germany - - - - - TS14 - 1 1 Thomas Eggermann
00457419 Fam6 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ..., two early abortions (gw4 and gw 4), 1 induced abortion (gw 19) 2 3 Johan den Dunnen
00457420 Fam7 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ... 2 2 Johan den Dunnen
00457421 Fam8 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID see paper; ..., 2 healthy children 1 2 Johan den Dunnen
00457429 Fam6sister PubMed: Begemann 2018 sister - - - - - - - - MLID see paper; ..., 1 healthy child (born 26w), 3 early abortions (gw 4, gw 6, gw 7), one ongoing pregnancy (ultrasound normal) 2 2 Johan den Dunnen
00457430 Fam6Pat PubMed: Begemann 2018 fetus - - - - - - - - MLID see paper; ..., 19w-induced, flat face, retrognathia, omphalocele, shortened humeri, mesenchymal placenta 1 1 Johan den Dunnen
00457431 Fam7Pat PubMed: Begemann 2018 daughter F - - - - - - - MLID see paper; ..., 36w-birth, weight 91st centile; exomphalos, macroglossia, neonatal diabetes, feeding difficulties in infancy, motor/speech delay, duplex kidneys, hemihypertrophy, scoliosis 1 1 Johan den Dunnen
00457432 Fam8Pat PubMed: Begemann 2018 son M - - - - - - - MLID see paper; ..., Silver Russell syndrome (NH-CSS 5/6) 1 1 Johan den Dunnen
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