Family pedigrees, clinical photographs/3D-CT scans and sequencing traces of families with mutations identified in FBN1 (A), EFNB1 (B) and STAT3 (C). Family.

Slides:

Advertisements

Similar presentations

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes Sabina Pena B. Pêgo, DDS, PhD,

Advertisements

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome Stephen R.F. Twigg,

CYB561 mutations. CYB561 mutations. The upper part shows the structure of the CYB561 gene, with the positions of the identified mutations indicated. Gray.

Figure Pedigrees of the SCA42 families identified in this study

Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C, Linked to Autosomal Dominant Long QT.

Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.

Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli,

Pedigrees of the families of patients 1 and 2 show that the clinical phenotype co-segregates with compound heterozygous CLDN10 variants. Pedigrees of the.

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta Walid El-Sayed, David A. Parry, Roger C. Shore,

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

Nat. Rev. Clin. Oncol. doi: /nrclinonc

The C1/C2 facet joint (FJ) recesses.

Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation Birgitt Schüle, Angelica Oviedo, Kathreen.

What type of tissue is indicated by the blue arrow?

A Genetic-Pathophysiological Framework for Craniosynostosis

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando G.

Example of algorithm for clinical assessment of patients at risk of non-alcoholic fatty liver disease Example of algorithm for clinical assessment.

Intraosseous temporal bone meningioma in a 45-year-old woman who presented with left-sided hearing loss and tinnitus. Intraosseous temporal bone meningioma.

A Genetic-Pathophysiological Framework for Craniosynostosis

Plain CT scan of head (a) and prethrombectomy (b, c), during thrombectomy (d, e, f) and post-thrombectomy (g, h) digital subtraction angiogram images in.

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene Stephen R.F. Twigg, Sarah L.

Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.

Representative CT and PET/CT images of three patients with NSCLCs

Parallel evolution of coding sequences above neutral expectation.

False-positive findings at the base of the left pterygoid process on conventional CT images alone in a 63-year-old woman with nasopharyngeal carcinoma.

Figure 1 Mutations in SPG7 in a family with primary lateral sclerosis

Airong Li, Sonia Davila, Laszlo Furu, Qi Qian, Xin Tian, Patrick S

Figure 1 Reduced pedigrees of the 11 PFBC families with MYORG mutations. Arrow = proband; asterisk = DNA available; ... Figure 1 Reduced pedigrees of the.

Schematic depiction of the effect of different types of Duchenne muscular dystrophy (DMD)-causing mutations on the dystrophin transcript. Schematic depiction.

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.

Figure 1 Family pedigree and DNA sequencing results

Fig F-FGln shows uptake in human gliomas undergoing progression.

XY plots with regression lines (red) showing the relationship between average (left panel) and peak (right panel) tissue stress at all bone sites for dual-energy.

Figure Novel compound heterozygous mutation in the COLQ gene causes congenital myasthenic syndrome Novel compound heterozygous mutation in the COLQ gene.

Figure 1 Pedigree and genetic findings

Figure 1 Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia Mutated CTSF in adult-onset neuronal ceroid.

Figure 3 Pedigrees of 3 multiplex families with NLRP3 mutations and MS The patient numbers refer to the patients listed in table 1. Pedigrees of 3 multiplex.

Figure SCA10 in a Chinese Han family (A) Pedigree of the Chinese Han spinocerebellar ataxia type 10 (SCA10) family. SCA10 in a Chinese Han family (A) Pedigree.

Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs,

An 11-year-old girl with left-face sensitivity and left-temple pain.

Comparative genomic expressive hybridisation detection and quantification. Comparative genomic expressive hybridisation detection and quantification. (A)

Distribution of podocyte gene mutations in patients with genetic congenital nephrotic syndrome (CNS) and steroid–resistant nephrotic syndrome (SRNS). Distribution.

(A) Segregation of mutations in TMEM231 in JBTS families.

Figure 2 Pedigrees of families and segregation analysis of variants c

Figure 2 Compound heterozygous mutations in ADAM22

(A) Radiograph of the knees of the proband of family B (case 3) at the age of 9 years 2 months showing smaller medial femoral and tibial condyles compared.

Partial pedigrees for novel INS mutations identified in probands with MODY and young type 2 diabetes. Partial pedigrees for novel INS mutations identified.

Figure Pedigree, images, and mutation analysis of the neuroferritinopathy family Pedigree, images, and mutation analysis of the neuroferritinopathy family.

Figure 1 Novel stopgain mutation in adenosine monophosphate deaminase 2 segregates with disease in family ACC1 and causes complete loss of protein Novel.

Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene Eyal Shteyer, Ann.

(A) MR scan of brain from an 82-year-old woman who presented with recurrent episodes of sudden onset needles affecting the face, gum and hand, with facial.

Left ventricular ejection fraction in patients without CAD (no CAD), with established CAD without MI (CAD, no MI), and patients with CAD and previous MI.

Figure Results of duplication analysis and patient 11's chorein analysis and geographical distribution of VPS13A mutations Results of duplication analysis.

Patient carrying two probably damaging missense variants in HCFC1 and ATRX: one causative mutation and one modifier variant? (A) Family tree of patient.

Representative CT and PET/CT images of three patients with NSCLCs

Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus Andrew J. Griffith, Leslie K. Sprunger, D. Alexa Sirko-Osadsa, George E. Tiller,

Imaging studies of patient BNF4.

All MRIs of the first 10 patients before (left), and at intervals after, with the diameter of greatest change shown in red. All MRIs of the first 10 patients.

Nail photographs and MRI scans of a patient with psoriatic arthritis.

Patient 10. Patient 10. A 67-year-old man after radiation therapy at an outside hospital for base-of-tongue cancer. A and B, Axial contrast-enhanced CT.

Comparison of mean Gensini scores (GS) and atherosclerotic scores (AS) according to the C282Y mutation in patients with single, double, and triple vessel.

A 16-year-old boy with rhabdomyosarcoma.

Driver pathways and key genes in OSCC

False-positive findings at the base of the left pterygoid process on conventional CT images alone in a 63-year-old woman with nasopharyngeal carcinoma.

(A) Computed tomography showing left frontal intracerebral haematoma and skull vault fracture with (B) corresponding plain skull radiograph showing a depressed.

Presentation transcript:

Family pedigrees, clinical photographs/3D-CT scans and sequencing traces of families with mutations identified in FBN1 (A), EFNB1 (B) and STAT3 (C). Family pedigrees, clinical photographs/3D-CT scans and sequencing traces of families with mutations identified in FBN1 (A), EFNB1 (B) and STAT3 (C). Each panel shows the location of the mutation (red line) within the gene structure (exons in blue), family pedigree (affected individuals are in black, black arrow depicts the proband and individuals selected for exome sequence/whole genome sequence are indicated with a red asterisk), sequence traces of indicated individuals (red arrow indicates position of mutation) and clinical photographs (B) and 3D-CT scans (C) of affected individuals. Note facial asymmetry associated with right unicoronal synostosis in patient with EFNB1 mutation (B); there is moderate hypertelorism, but the grooving of the nasal tip usually observed in craniofrontonasal syndrome is absent. In the patient with the STAT3 mutation (C), images with soft tissue windows (left and centre) show exorbitism, mid-face hypoplasia and vertex bulge; image with bone windows (right) shows fusion of all sutures of the skull vault. Kerry A Miller et al. J Med Genet 2017;54:260-268 ©2017 by BMJ Publishing Group Ltd