All individuals with variants in gene PIK3R1

31 entries on 1 page. Showing entries 1 - 31.
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00079886 - PubMed: Chudasama 2013 - - - - - - - - - SHORT - 1 1 Jelena Čalyševa
00079888 - PubMed: Dyment 2013 - F - - - - - - - SHORT - 1 1 Jelena Čalyševa
00079890 - PubMed: Dyment 2013 - M - - - - - - - SHORT - 1 1 Jelena Čalyševa
00079891 - PubMed: Bárcena 2014 - M - - - - - - - SHORT - 1 1 Jelena Čalyševa
00079900 - PubMed: Thauvin-Robinet 2013 - - - - - - - - - ? Diagnosis: Insulin resistance, lipoatrophy 1 1 Jelena Čalyševa
00080193 - PubMed: Baynes et al 2000 - - - - - - - - - ? Diagnosis: severe insulin resistance 1 1 Gerard C.P. Schaafsma
00293890 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00293891 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00307257 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307258 Patient 64 PubMed: Mendonca 2021 patient with retinoblastoma M - Brazil - - - - - RB1 Bilateral 1 1 Vanessa Mendonça
00319854 patient PubMed: Goncalves 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Brazil - - - - - SHORT see paper; ..., short stature, ocular depression, Rieger anomaly, teething delay; facial hirsutism, blue sclera, small upslanting palpebral fissures, hypoplastic alae nasi, full cheeks, thin upper lips, large dysplastic ears, micrognathia 1 1 Juliana Mazzeu
00334481 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00410753 Pat1 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; macrodactyly, sandal gap; fatty overgrowth 1 1 Johan den Dunnen
00410754 Pat2 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; macrodactyly, Leg length discrepancy, sandal gap; right congenital buphthalmos (congenital toxoplasmosis), right anterior segment dysgenesis with glaucoma, right microphthalmia 1 1 Johan den Dunnen
00410755 Pat3 PubMed: Cottrell 2021 - - - United States - - - - - ? congenital malformation syndrome involving early overgrowth, concern for CLOVES 1 1 Johan den Dunnen
00410756 patient;Pat4 PubMed: Siegel 2018, PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; leg length discrepancy 1 1 Johan den Dunnen
00410757 Pat5 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; macrodactyly, syndactyly; lipoma 1 1 Johan den Dunnen
00410758 Pat6 PubMed: Cottrell 2021 - - - United States - - - - - ? developmental delay; capillary malformation; no lymphatic malformation; no venous malformation; overgrowth; no skeletal abnormalities 1 1 Johan den Dunnen
00410759 Pat7 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; no lymphatic malformation; venous malformation; overgrowth; macrodactyly, sandal gap 1 1 Johan den Dunnen
00410760 Pat8 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; no capillary malformation; no lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities 1 1 Johan den Dunnen
00410761 Pat9 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; no lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities 1 1 Johan den Dunnen
00410762 Pat10 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities; lipoma 1 1 Johan den Dunnen
00410763 Pat11 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; no lymphatic malformation; venous malformation; overgrowth; leg length discrepancy 1 1 Johan den Dunnen
00410764 Pat12 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities; frontal bossing 1 1 Johan den Dunnen
00410765 Pat13 PubMed: Cottrell 2021 - - - United States - - - - - ? reticulated port wine stain of left leg also affecting left side of scrotum; left leg hypoplastic; left testicular nubbin 1 1 Johan den Dunnen
00410766 Pat14 PubMed: Cottrell 2021 - - - United States - - - - - ? suspected Klippel-Trenaunay syndrome 1 1 Johan den Dunnen
00410767 Pat15 PubMed: Cottrell 2021 - - - United States - - - - - ? vascular nevus, hemihypertrophy 1 1 Johan den Dunnen
00410768 Pat16 PubMed: Cottrell 2021 - - - United States - - - - - ? no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities 1 1 Johan den Dunnen
00410769 Pat17 PubMed: Cottrell 2021 - - - United States - - - - - ? suspected Klippel-Trenaunay syndrome; vascular malformation and lipoma of left foot 1 1 Johan den Dunnen
00419529 9127 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00433672 - - - M - - - - - - - AUTSX4 moderate intellectual disability, global developmental delay 1 1 Marketa Wayhelova
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