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Genetic Counseling

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https://www.readbyqxmd.com/read/29485843/pathogenic-compound-heterozygous-mutations-in-a-mexican-mestizo-patient-with-niemann-pick-disease-type-b
#1
J Salvador Velarde-Félix, J F Osuna-Ramos, M G Sánchez-Leyva, E R Ríos Burgueño, L M Monroy Arellano
Niemann-Pick disease (NPD) type B is a lysosomal storage disorder caused by a deficiency of acid sphingomyelinase (ASM). We report the clinical follow-up of a 16-year-old Mexican mestizo woman with a NPD type B phenotype who presented hepatosplenomegaly, persitstenly low high-density lipoprotein (HDL) cholesterol and thrombocytopenia, without central nervous system involvement. After of a dengue fever episode with severe anemia and pancytopenia, leading to a bone marrow study n which foamy histiocytes were noticed and diagnosis of NiemannPick disease was suspected; and confirmed by biochemical and molecular tests...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485838/kept-in-mind-infantile-neuroaxonal-dystrophy
#2
LETTER
Z S Karalok, B D Taskin, U Aydogmus, S Ceylaner, K Karaer, C Yilmaz
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485837/distal-trisomy-10q-due-to-maternal-insertional-translocation-15-10-a-case-report-and-review-of-literature
#3
REVIEW
Ö Türedi, A Vícdan, N Yürür Kutlay
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485836/a-boy-with-short-stature-unusual-findings-and-low-percentage-of-45-x-4-46-xy-96-mosaicism
#4
LETTER
M Dogan, R Eroz, S Bolu, H Yuce, E Gun
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485835/dyskeratosis-congenita-a-case-report
#5
LETTER
S Ozemri Sag, A Topak, O Gorukmez, O Gorukmez, M Ture, J Carrillo, S Sahinturk, T Gulten, R Perona, T Yakut
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485834/basal-cell-nevus-gorlin-syndrome-with-a-novel-heterozygous-deletion-frameshift-mutation-c-959delc-p-val322-phe-fsx2-in-the-ptch1-gene-associated-with-epiretinal-membrane-odontogenic-keratocysts-and-without-skin-lesions-and-falx-cerebri-calcification
#6
https://www.readbyqxmd.com/read/29485833/a-novel-mutation-of-the-gaa-gene-in-a-patient-with-early-onset-pompe-disease-lacking-a-disease-specific-pathology
#7
LETTER
B Kilic, C Ayse Kartal
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485832/transmembrane-activator-and-caml-interactor-taci-haploinsufficiency-in-b-cell-dysfunction-in-a-patient-with-smith-magenis-syndrome
#8
LETTER
E Karaca, T Atik, A Alpman Durmaz, F Ozkinay, O Cogulu
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485831/concomitance-of-goldenhar-syndrome-with-congenital-alopecia-areata
#9
LETTER
O Güngör, S Kirik, S Işikay, G Güngör, N Bílal
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485829/a-newborn-with-down-syndrome-developing-hydrops-fetalis-due-to-transient-myeloproliferative-disorder-and-liver-hamartoma
#10
LETTER
M Saldir, A Polat, O Babacan, U Keskin, O Gursel, M Gulgun, C Zeybek, T Tunc
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485828/penile-plexiform-neurofibroma-in-a-patient-with-neurofibromatosis-i
#11
LETTER
H Koseoglu, E Demiralay, I Isiklar
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485827/ultrasonographic-and-cytogenetic-issues-in-prenatal-diagnosis-of-pallister-killian-syndrome
#12
LETTER
Z Cetin, C Sanhal, S B Karauzum, I Mendilcioglu, S Yakut
No abstract text is available yet for this article.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485826/the-clinical-spectrum-of-a-rare-chromosomal-abnormality-isochromosome-18p
#13
B G Nur, O A Clark, Z Cetin, A Toylu, S B Karauzum, E Mihci
Isochromosome 18p is a rare chromosomal disorder that occurs with a frequency of approximately one in every 180,000 live births, and affects both genders equally. MOst cases result from a de novo formation. In the literature, there are currently only a small number of reports that describe the phenotypic and clinical features of Isochromosome 18p. In this article, we report six cases that displayed the phenotypic and clinical features of Isochromosome 18p, and which were subsequently confirmed by conventional karyotyping and fluorescence in situ hybridization...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485825/a-rare-case-of-hanhart-syndrome-with-mild-developmental-delay
#14
G Gulec Ceylan, T Tos, E Sari
Hanhart Syndrome (OMIM 103300) is an extremely rare syndrome with some congenital malformations. It is characterized by hypoglossia, adactylia/hypodactylia, peromelia of arms and/or legs and micrognathia. The severity of the symptoms can differ from patient to patient. Some affected individuals may have only a part of these clinical features. In this case report, we want to present a Turkish girl with hypoglossia, micrognathia and peromelia who was diagnosed according to the clinical and radiographic findings...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485824/annular-pancreas-severe-tracheomalacia-and-bronchomalacia-in-a-preterm-boy-with-vacterl-association
#15
A Akdag, A Turgut, S Ceylan, M Kaya
VACTERL association includes vertebral anomalies, anal atresia, cardiac defects, tracheao-esophageal fistula, renal anomalies, and limb abnormalities. It is defined by the presence of at least three of these congenital malformations. The incidence has been estimated to be 1/10.000-1/40.000 live births. We report on a preterm infant with VACTERL presentin with respiratory complicatons due to the presence of severe tracheomalacia and bronchomalacia. He also had an annular pancreas.
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485812/mitochondrial-neurogastrointestinal-encephalopathy-clinical-biochemical-and-molecular-study-in-three-egyptian-patients
#16
L Selim, R Van Coster, D Mehaney, F Hassan, A Vanlander, J Smet, E De Latter, K Vandemeulebroecke, D Mohamed Abdou, G Nakhla, M Mostafa, D Habets, J Bakker, A Abdel Bary
Background: Mitochondrial Neurogastrointestinal Encephalopathy syndrome is a rare autosomal recessive disorder. The disease is caused by mutations in the thymidine phosphorylase gene. This article reports the clinical, biochemical and molecular findings in three Egyptian patients with Mitochondrial Neurogastrointestinal Encephalopathy sundrome from two different pedigrees. Subjects and Methods: The three patients were subjected to thorough neurologic examination...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485809/a-deletion-mutation-of-the-connexin-26-gjb2-gene-in-a-turkish-patient-with-vohwinkel-syndrome
#17
S Ozturk, I Can, B Eser, H Yazici
Vohwinkel syndrome (VS), also known as keratoderma hereditaria mutilans, is a rare keratinization genetic disorder characterized by palmoplantar keratoderma, skeletal dysmorphisms and varying degrees of sensorineural deafness. Its mode of inheritance is autosomal-dominant, with mutations in loricrin and connexin 26 (GJB2) genes that manifest during infancy and boceme more evident during adulthood. We herein report a case of VS in a 23-year-old female exhibiting sensorineural hearing loss, palmar keratoderma and homozygous deletion mutation delE120 (c...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485808/distal-13q-monosomy-and-neural-tube-defects
#18
I W Lurie, I V Novikova, O A Tarletskaya, A A Lazarevich, O A Gromyko
We present a fetus with typical manifestations of distal monosomy 13q (oligodactyly, heart defect, anal atresia, hypoplastic kidneys) and der( 13)t( 1 ; 13)(q42;q21)pat. He also had exencephaly which at this developmental stage is an embryological precursor of anencephaly. Detailed analysis of neural tube defects (NTD) in publications about distal monosomy 13q showed that most defects affect cranial aspect of the neural tube (anencephaly, exencephaly, encephaloceles) with a relative small proportion of spina bifida...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485807/central-nervous-system-abnormalities-and-psychomotor-retardation-in-a-girl-with-a-15-4-mb-deletion-of-14q12%C3%A2-q21-2-and-a-550-kb-deletion-of-18p11-23-microarray-delineation-of-an-unbalanced-chromosome-rearrangement-and-a-literature-review
#19
REVIEW
D Torun, M Arslan, H Akar, K Karaer, B Ünay, Y Tunca
This paper describes the presence of a 15.4 Mb deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23 in a patient with an apparently balanced translocation between chromosomes 14 and 18 [t( 14; 18) (ql2; pi 11)]. The patient had developmental delay, truncal hypotonia, hyperreflexia and spasticity of the lower extremities, prominent forehead, fullness of the periorbital region, hypertelorism, upslanted palpebral fissures, systagmus, a depressed nasal bridge, down-turned conrners of the mouth, a prominent philtrum, thin upper lip, pointed chin, and deep palmar creases...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/29485260/meirer-gorlin-syndrome-a-primordial-dwarfic-rare-case-with-growth-and-mental-retardation-in-normal-karyotype
#20
B Paksoy, F Silan, O Yildiz, O Ozdemir, Z T Tas
No abstract text is available yet for this article.
2016: Genetic Counseling
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