All individuals with variants in gene PTPN11

290 entries on 3 pages. Showing entries 1 - 100.
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00016593 patient PubMed: Döcker 2015, Journal: Döcker 2015 - M yes Turkey Turkish - 0 - - MCAP, NS features: - megalencephaly - cerebellar tonsillar ectopia - abnormal thick corpus callosum - congenital somatic overgrowth - somatic asymmetry/hemihypertrophy - cutaneous capillary malformations: midline facial naevus flammeus, cutis marmorata - syndactyly - postaxial polydactyly - hypotonia - developmental delay - frontal bossing 1 1 Dennis Döcker
00043985 - - - F - (United Kingdom (Great Britain)) - - 0 - - NSLL - 1 1 Pia Ostergaard
00043986 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - 1 1 Pia Ostergaard
00043987 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - 1 1 Pia Ostergaard
00043988 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - 1 1 Pia Ostergaard
00043989 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - 1 1 Pia Ostergaard
00043990 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - 1 1 Pia Ostergaard
00050594 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - 0 Decipher - ? defect in the atrial septum, deeply set eye, postnatal microcephaly, low posterior hairline, hypermetropia, gastroesophageal reflux, sleep disturbance, intellectual disability, autism, anxiety, constipation, impaired pain sensation 1 2 Johan den Dunnen
00050645 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? narrow forehead, global developmental delay, defect in the atrial septum, dysplastic pulmonary valve, low-set ears 1 1 Johan den Dunnen
00079904 - PubMed: Carapito 2014 - F no (France) - - 0 - - NS high anterior, depressed nasal bridge, hypertelorism, down-slanting palpebral fissures, low-set and posteriorly angulated ears with thick helices; multiple giant cell lesions; pigmented villonodular synovitis lesions 1 1 Jelena Čalyševa
00079905 - PubMed: Chen 2009 fetus - - - - - 0 - - NS fetal chylothorax 1 1 Jelena Čalyševa
00079906 - PubMed: Atik 2016 - F - (Turkey) - - 0 - - NS Symptoms: hypertrophic cardiomyopathy, thorax deformity, mild developmental delay 1 1 Jelena Čalyševa
00079907 - PubMed: Ko 2008 - - - Korea - - 0 - - NS - 1 1 Jelena Čalyševa
00080194 - PubMed: Tartaglia, M (2004) - - ? - - - 0 - - leukemia, acute, lymphoblastic Diagnosis: Acute lymphoblastic leukemia - Pre-B 1 1 Gerard C.P. Schaafsma
00080195 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080196 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080197 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080198 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080199 - PubMed: Sarkozy, A (2003) atrioventricular septal defect - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080200 - PubMed: Sarkozy, A (2003) hypertrophic cardiomyopathy - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080201 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080202 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080203 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080204 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080205 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080206 - PubMed: Tartaglia, M (2004) - - ? - - - 0 - - leukemia, acute, lymphoblastic Diagnosis: Acute lymphoblastic leukemia - common 1 1 Gerard C.P. Schaafsma
00080207 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080208 - PubMed: Loh, M. L (2004) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080209 - PubMed: Loh, M. L (2004) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080210 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080211 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080212 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080213 - PubMed: Schollen, E (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080214 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080215 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080216 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080217 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080218 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080219 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080220 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080221 - PubMed: Tartaglia, M (2004) - - ? - - - 0 - - leukemia, acute, lymphoblastic Diagnosis: Acute lymphoblastic leukemia - common 1 1 Gerard C.P. Schaafsma
00080222 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080223 - PubMed: Maheshwari, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080224 - PubMed: Maheshwari, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080225 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080226 - PubMed: Kosaki, K (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080227 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080228 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080229 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080230 - PubMed: Sarkozy, A (2003) Symptoms: atrioventricular septal defect - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080231 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080232 - PubMed: Sarkozy, A (2003) Symptoms: pulmonary valve stenosis (familial) - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080233 - PubMed: Sarkozy, A (2003) Symptoms: atrial septal defect - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080234 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080235 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080236 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080237 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080238 - PubMed: Kosaki, K (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080239 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080240 - PubMed: Tartaglia, M (2004) - - ? - - - 0 - - AML Diagnosis: Acute monocytic leukemia 1 1 Gerard C.P. Schaafsma
00080241 - PubMed: Tartaglia, M (2003) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080242 - PubMed: Tartaglia, M (2003) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080243 - PubMed: Tartaglia, M (2003) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080244 - PubMed: Tartaglia, M (2003) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080245 - PubMed: Tartaglia, M (2003) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080246 - PubMed: Sarkozy, A (2003) Symptoms: pulmonary valve stenosis - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080247 - PubMed: Sarkozy, A (2003) Symptoms: pulmonary valve stenosis - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080248 - PubMed: Loh, M. L (2004) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080249 - PubMed: Tartaglia, M (2003) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080250 - PubMed: Tartaglia, M (2004) - - ? - - - 0 - - leukemia, acute, lymphoblastic Diagnosis: Acute lymphoblastic leukemia - common 1 1 Gerard C.P. Schaafsma
00080251 - PubMed: Tartaglia, M (2004) - - ? - - - 0 - - leukemia, acute, lymphoblastic Diagnosis: Acute lymphoblastic leukemia - common 1 1 Gerard C.P. Schaafsma
00080252 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080253 - PubMed: Yamamoto, T (2006) - - ? - - - 0 - - leukemia, acute, lymphoblastic Diagnosis: Acute lymphoblastic leukemia (ALL) 1 1 Gerard C.P. Schaafsma
00080254 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080255 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080256 - PubMed: Hou, H. A (2007) - M ? - - - 0 - - AML Diagnosis: Acute myeloid leukemia 1 1 Gerard C.P. Schaafsma
00080257 - PubMed: Hou, H. A (2007) - M ? - - - 0 - - AML Diagnosis: Acute myeloid leukemia 1 1 Gerard C.P. Schaafsma
00080258 - PubMed: Hou, H. A (2007) - M ? - - - 0 - - AML Diagnosis: Acute myeloid leukemia 1 1 Gerard C.P. Schaafsma
00080259 - PubMed: Kratz, C. P (2005) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080260 - PubMed: Tartaglia, M (2004) - - ? - - - 0 - - leukemia, acute, lymphoblastic Diagnosis: Acute lymphoclastic leukemia - common 1 1 Gerard C.P. Schaafsma
00080261 - PubMed: Hou, H. A (2007) - M ? - - - 0 - - AML Diagnosis: Acute myeloid leukemia 1 1 Gerard C.P. Schaafsma
00080262 - PubMed: Tartaglia, M (2004) - - ? - - - 0 - - leukemia, acute, lymphoblastic Diagnosis: Acute lymphoblastic leukemia - common 1 1 Gerard C.P. Schaafsma
00080263 - PubMed: Hou, H. A (2007) - M ? - - - 0 - - AML Diagnosis: Acute myeloid leukemia 1 1 Gerard C.P. Schaafsma
00080264 - PubMed: Sarkozy, A (2003) Symptoms: pulmonary valve stenosis; atrial septal defect - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080265 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080266 - PubMed: Loh, M. L (2004) - - ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080267 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080268 - PubMed: Musante, L (2003) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080269 - PubMed: Maheshwari, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080270 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080271 - PubMed: Tartaglia, M (2002) - - ? - - - 0 - - JMML;CMML, NS Diagnosis: Noonan syndrome / juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080272 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080273 - PubMed: Zenker, M (2004) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080274 - PubMed: Becker, K (2007) Relative in Description of pedigree:A0234: daughter M ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080275 - PubMed: Flotho, C (2007) - M ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080276 - PubMed: Flotho, C (2007) - M ? - - - 0 - - JMML;CMML Diagnosis: Juvenile myelomonocytic leukemia 1 1 Gerard C.P. Schaafsma
00080277 - PubMed: Kosaki, K (2002) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080278 - PubMed: Tartaglia, M (2001) - - ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
00080279 - PubMed: Paulsson, K (2008) - F ? - - - 0 - - leukemia, acute, lymphoblastic Diagnosis: Acute lymphoblastic leukemia 1 1 Gerard C.P. Schaafsma
00080280 - PubMed: Becker, K (2007) Relative in Description of pedigree:A0233: father; The patient was a fetus, demised at the age of 12 weeks. The DNA analysis from autopsy fetal muscle confirmed compound heterozygosity for the parental Y63C and N308S mutations. F ? - - - 0 - - NS Diagnosis: Noonan syndrome 1 1 Gerard C.P. Schaafsma
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